[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-disease":30},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,43,0,25,[9,57,83,118,146,170,197,228,248,267,289,310,337,362,390,412,442,468,489,511,538,562,585,604,628],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":15,"acronym":16,"eligibilityCriteria":17,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":20,"enrollmentInfo":21,"targetDuration":24,"studyType":25,"phases":4,"briefSummary":26,"conditions":27,"keywords":38,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":45,"lastUpdatePostDateStruct":46,"startDateStruct":49,"completionDateStruct":51,"leadSponsor":53,"locationsCount":56},"100472474","rett-syndrome-registry-100472474",false,"NCT05432349","Rett Syndrome Registry","Rett Syndrome Real World Data Observational Registry","RSR","Inclusion Criteria:\n\n* Male or female with a pathologic loss of function alteration of MECP2\n\nExclusion Criteria:\n\n* Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication","ALL","0 Years","99 Years",{"count":22,"type":23},3000,"ESTIMATED","5 Years","OBSERVATIONAL","The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.",[28,29,30,31,32,33,34,35,36,37],"Rett Syndrome","Rett Syndrome, Atypical","Genetic Disease","Genetic Diseases, X-Linked","Intellectual Disability","Neurobehavioral Manifestations","Neurologic Manifestations","Neurologic Disorder","Neurodevelopmental Disorders","Nervous System Diseases",[39,40,41,42,43],"Rett syndrome","MECP2","Neurodevelopmental disorder","Registry","Natural History Study","RECRUITING","2026-06-26",{"date":47,"type":48},"2026-06-30","ACTUAL",{"date":50,"type":48},"2022-08-02",{"date":52,"type":23},"2028-07",{"name":54,"class":55},"International Rett Syndrome Foundation","OTHER",19,{"id":58,"slug":59,"hasResults":12,"nctId":60,"briefTitle":61,"officialTitle":61,"acronym":62,"eligibilityCriteria":63,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":64,"targetDuration":4,"studyType":66,"phases":67,"briefSummary":69,"conditions":70,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":82},"100477601","functional-study-to-indentify-genetic-etiology-of-rare-diseases---origin-100477601","NCT05499091","Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN","ORIGIN","Inclusion Criteria:\n\nPatient :\n\n* Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.\n* Patient Affiliated to the French social security system.\n* Patient consent form or legal representative consent form obtained.\n\nPatient's parent :\n\n* Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Parent included in the BaMaRa database.\n* Parent affiliated to the French social security system.\n* Parent consent form obtained for himself\u002Fherself.\n\nPatient's brother or sister :\n\n* Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Brother or sister included in the BaMaRa database.\n* Brother or sister affiliated to the French social security system.\n* Brother or sister consent form obtained for themselves or from their legal representative.\n\nExclusion Criteria:\n\n* Poor understanding of the French language\n* Legal of administrative liberty deprivation\n* Psychiatric force care",{"count":65,"type":23},1200,"INTERVENTIONAL",[68],"NA","Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.",[71,30],"Rare Diseases","2026-06-25",{"date":74,"type":48},"2026-06-29",{"date":76,"type":48},"2022-10-10",{"date":78,"type":23},"2045-10-10",{"name":80,"class":81},"University Hospital, Angers","OTHER_GOV",1,{"id":84,"slug":85,"hasResults":12,"nctId":86,"briefTitle":87,"officialTitle":88,"acronym":89,"eligibilityCriteria":90,"healthyVolunteers":12,"sex":18,"minAge":91,"maxAge":92,"enrollmentInfo":93,"targetDuration":4,"studyType":66,"phases":95,"briefSummary":97,"conditions":98,"keywords":104,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":109,"lastUpdatePostDateStruct":110,"startDateStruct":112,"completionDateStruct":114,"leadSponsor":116,"locationsCount":82},"100308878","phase-2-rifampin-in-cyp24a1-related-hypercalcemia-and-hypercalciuria-100308878","NCT03301038","Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria","Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene","RICHH","Inclusion Criteria:\n\n* Males or females age 6 months to 65 years.\n* at least one mutations of CYP24A1\n* Serum and\u002For urinary calcium above the normal reference range for age\n* Serum PTH concentration \\\u003C20 pg\u002Fml\n* Elevated or normal serum concentration of 1,25-dihydroxyvitamin D3.\n\nExclusion Criteria:\n\n* Parents\u002Fguardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.\n* Allergy to rifampin or related medications\n* Current therapies with medications that have significant drug-drug interactions with rifampin, defined as a medication considered to interact with CYP3A4 or CYP3A5 and either induce or inhibit expression or function of these P450 enzymes. By \"drug-drug\" interactions we are looking for medications that will affect metabolism or action of rifampin as exclusionary, not medications that will be affected by rifampin.\n* Pregnancy or breastfeeding\n* Laboratory abnormalities that indicate clinically significant hepatic, or renal disease:\n* Aspartate Aminotransferase (AST\u002FSGOT) \\> 2.0 times the upper limit of normal Alanine aminotransferase (ALT\u002FSGPT) \\> 2.0 times the upper limit of normal Total bilirubin \\> 2.0 times the upper limit of normal Creatinine \\> 2.0 times the upper limit of normal","6 Months","65 Years",{"count":94,"type":23},60,[96],"PHASE2","This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and\u002For hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene. Eligible subjects will receive rifampin for a total of 16 weeks during this study.",[99,30,100,101,102,103],"Idiopathic Infantile Hypercalcaemia - Severe Form","Hypercalcemia, Idiopathic, of Infancy","Hypercalciuric Hypercalcemia","Idiopathic Infantile Hypercalcemia - Mild Form","Hypercalciuria",[105,106,107,108],"hypercalcemia","nephrocalcinosis","CYP24A1","hypercalciuria","2026-06-18",{"date":111,"type":48},"2026-06-22",{"date":113,"type":48},"2018-07-25",{"date":115,"type":23},"2030-12",{"name":117,"class":55},"Children's Hospital of Philadelphia",{"id":119,"slug":120,"hasResults":12,"nctId":121,"briefTitle":122,"officialTitle":123,"acronym":4,"eligibilityCriteria":124,"healthyVolunteers":125,"sex":18,"minAge":126,"maxAge":127,"enrollmentInfo":128,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":130,"conditions":131,"keywords":132,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":135,"lastUpdatePostDateStruct":136,"startDateStruct":138,"completionDateStruct":140,"leadSponsor":142,"locationsCount":145},"100243708","clinical-and-genetic-evaluation-of-individuals-with-undiagnosed-disorders-through-the-undiagnosed-diseases-network-100243708","NCT02450851","Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network","Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network","* INCLUSION CRITERIA:\n\nIdeal participants for tier 2-4 evaluations include individuals with:\n\n* One or more objective findings pertinent to the phenotype for which a case was submitted.\n* No diagnosis despite evaluation by specialists who assessed the patient for the objective finding(s).\n* Agreement for the storage and sharing of information and biomaterials, in an identified fashion amongst the UDN centers, and in a de-identified fashion to research sites beyond the network.\n\nParticipants unable to consent can be enrolled.\n\nEXCLUSION CRITERIA:\n\nIndividuals who are unlikely to be assigned to tier 2-4 evaluations include those with:\n\n* Reported symptoms with no relevant objective findings.\n* A diagnosis explaining objective findings.\n* A diagnosis suggested on record review.\n* Unwillingness to share data.",true,"1 Month","100 Years",{"count":129,"type":23},20000,"Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.",[30],[71,133,134],"Undiagnosed Diseases","Natural History","2026-06-10",{"date":137,"type":48},"2026-06-11",{"date":139,"type":48},"2015-09-16",{"date":141,"type":23},"2028-12-31",{"name":143,"class":144},"National Human Genome Research Institute (NHGRI)","NIH",33,{"id":147,"slug":148,"hasResults":12,"nctId":149,"briefTitle":150,"officialTitle":150,"acronym":4,"eligibilityCriteria":151,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":127,"enrollmentInfo":152,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":154,"conditions":155,"keywords":157,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":161,"lastUpdatePostDateStruct":162,"startDateStruct":164,"completionDateStruct":166,"leadSponsor":168,"locationsCount":82},"100407488","uw-undiagnosed-genetic-diseases-program-100407488","NCT04586075","UW Undiagnosed Genetic Diseases Program","Inclusion Criteria:\n\n* The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing).\n* The applicant has at least one objective finding that is likely to have an identifiable genetic etiology.\n* The applicant likely has a currently undescribed\u002Fnew genetic condition or a known genetic condition associated with a novel gene.\n* The applicant\u002Flegal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP)\n* The applicant\u002Flegal guardian agrees to receive secondary findings from genetic testing.\n* The applicant\u002Flegal guardian has sufficient proficiency in English to understand the consent.\n\nExclusion Criteria:\n\n* The applicant already has a diagnosis that explains the objective findings.\n* A specific diagnosis is suspected and a standard clinical workup performed by the referring\u002Fprimary care provider would be appropriate.\n* The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received.\n* The applicant's symptoms are likely multifactorial or due to a non-genetic cause.",{"count":153,"type":23},1000,"The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited.",[71,30,156],"Undiagnosed Disease",[158,159,160],"genomics","genome sequencing","undiagnosed disease","2026-05-28",{"date":163,"type":48},"2026-05-29",{"date":165,"type":48},"2021-07-16",{"date":167,"type":23},"2030-10",{"name":169,"class":55},"University of Wisconsin, Madison",{"id":171,"slug":172,"hasResults":12,"nctId":173,"briefTitle":174,"officialTitle":175,"acronym":4,"eligibilityCriteria":176,"healthyVolunteers":12,"sex":18,"minAge":177,"maxAge":178,"enrollmentInfo":179,"targetDuration":4,"studyType":66,"phases":181,"briefSummary":182,"conditions":183,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":188,"lastUpdatePostDateStruct":189,"startDateStruct":191,"completionDateStruct":193,"leadSponsor":195,"locationsCount":82},"100595948","using-a-speech-generating-device-to-support-communication-in-rare-genetic-conditions-100595948","NCT07039084","Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions","A Randomized Cross-over Trial Examining the Efficacy of Implementing a Speech-generating Device for Rare Genetic Conditions","Inclusion Criteria:\n\n* Is between the ages of 3 and 12 years, inclusive, at the time of enrolment\n* Has a diagnosis of a rare genetic disorder\n* Passes a visual-motor screening test, therefore being able to tap on an iPad spontaneously or by imitation and has adequate hearing\n* Considered \"minimally verbal\" with less than 50 spontaneous words (or gestalts) at baseline assessments, confirmed with the LVIS.\n* Is not currently using a speech-generating device with proficiency (i.e. using the device as a main mode of communication on a daily basis).\n* Is English-speaking or consents to therapy being conducted in English (parents will need to be able to complete the parent-reported measures in English)\n\nExclusion Criteria:\n\n* Has an additional or dual genetic variation (as this is likely to cause multiple complications and increase variability),\n* Is extremely ill or has progressed into a later stage of their disease (i.e. child has clinically significant loss of vision, hearing, fine motor skills, or is unable to adequately attend sessions due to illness),\n* This is to ensure treatment is beneficial, reduce harm and reduce attrition rates.\n* Lives outside of the state of Victoria (making it difficult for in-person appointments)\n* Inability or unwillingness of participant or legally acceptable representative to give written informed consent.","3 Years","12 Years",{"count":180,"type":23},38,[68],"Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech. The aim of this clinical trial is to examine how well a speech-generating device supports the communication skills of participants with a rare genetic condition. The speech-generating device is a communication program loaded onto an iPad.\n\nThis is a crossover trial, meaning that each participant will receive both the treatment (device) and a control (usual care; no device) phase. The order in which each participant receives the device versus the usual care (no device) will depend on which group the participant is assigned to. The changes in communication in each phase will then be compared.\n\nDuring the trial, participants can expect to complete a series of assessments and attend a total of 2 x 1-hour therapy session per week for 6 weeks.",[30,184,185,186,187],"Nonverbal Communication","Augmentative and Alternative Communication","Rare Genetic Disease","Rare Genetic Disorders","2026-05-21",{"date":190,"type":48},"2026-05-26",{"date":192,"type":48},"2025-11-03",{"date":194,"type":23},"2027-05",{"name":196,"class":55},"Murdoch Childrens Research Institute",{"id":198,"slug":199,"hasResults":12,"nctId":200,"briefTitle":201,"officialTitle":201,"acronym":202,"eligibilityCriteria":203,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":204,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":206,"conditions":207,"keywords":211,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":218,"lastUpdatePostDateStruct":219,"startDateStruct":221,"completionDateStruct":223,"leadSponsor":225,"locationsCount":227},"100596078","natural-history-of-type-1-interferonopathies-insights-from-a-european-cohort-100596078","NCT07040774","Natural History of Type 1 Interferonopathies: Insights From a European Cohort","EU-IFNp","Inclusion Criteria:\n\n* Genetically confirmed patient with type I interferonopathy\n* Patient affiliated to a social security scheme or beneficiary of such a scheme.\n\nExclusion Criteria:\n\n\\- Opposition of the patient and\u002For parental authority if the patient is a minor, to participation in the study.",{"count":205,"type":23},500,"Type I interferonopathies are rare autoinflammatory disorders caused by genetic defects and associated with significant morbidity and mortality. These diseases are refractory to conventional immunosuppressive therapies. They typically occur in childhood, although disease onset in adulthood has been observed. The clinical spectrum is wide and mainly involves the central nervous system. Joint involvement is also common, and more rarely, haematological features such as cytopenias or immunodeficiency may be observed.\n\nNearly all patients show consistent over-activation of the type I IFN pathway, as evidenced, the expression of IFN-stimulated genes, the so-called 'interferon signature'. To date, the natural history of interferonopathies remains unclear.\n\nIn this context, the establishment of a natural history of type I interferonopathy in patients is proposed to elucidate the pathophysiological mechanisms and identify biomarkers for diagnosis, prognosis, and disease activity, with the aim of better characterising the diversity of interferonopathies.\n\nThe main objective is to characterise the evolution of the pathology in paediatric and adult patients with type I interferonopathies.\n\nThe overall aim of this research is to propose therapeutic options tailored to patient phenotypes and to better define patient sub-groups in order to optimise the preparation of future clinical trials.",[30,208,209,210],"Immune Dysfunction","Neurological Diseases or Conditions","Autoimmune Diseases",[212,213,214,215,216,217],"Immune dysfuntion","Neurological disease","Autoimmune diseases","Genetics diseases","Interferon","Aicardi-Goutieres Syndrom","2026-05-12",{"date":220,"type":48},"2026-05-13",{"date":222,"type":48},"2025-10-01",{"date":224,"type":23},"2045-10",{"name":226,"class":55},"Imagine Institute",32,{"id":229,"slug":230,"hasResults":12,"nctId":231,"briefTitle":232,"officialTitle":232,"acronym":4,"eligibilityCriteria":233,"healthyVolunteers":12,"sex":18,"minAge":234,"maxAge":235,"enrollmentInfo":236,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":237,"conditions":238,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":239,"lastUpdatePostDateStruct":240,"startDateStruct":241,"completionDateStruct":243,"leadSponsor":245,"locationsCount":82},"100332748","developing-protocols-for-modelling-of-genetic-diseases-using-induced-pluripotent-stem-cells-100332748","NCT03612310","Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells","Inclusion Criteria:\n\n* Male or female\n* Individuals diagnosed with a genetic disease - any age between 1-120 years.\n* Individuals diagnosed with a genetic disease - must be able to communicate well with the investigator and to comply with the requirements of the entire study OR be under the care of an appropriate guardian, if incapacitated or under the age of 16.\n* Individuals diagnosed with a genetic disease - require provision of written informed consent either by participant or guardian, to participate as shown by a witnessed signature on the Subject Consent Form\n* Individuals participating as controls - aged between 16-120 years.\n* Individuals participating as controls -must be able to consent for themselves\n\nExclusion Criteria:\n\n* Individuals less than 1 year old.\n* Infection with any blood borne diseases (e.g. HIV, Hepatitis B or Hepatitis C).\n* Previous or current intravenous drug abuse.\n* For donation of blood samples only - has exceeded annual limit for blood donation.\n* Affected by blood disorders such as anaemia, blood clotting disorders or currently on anticoagulant drug therapy.\n* Individuals participating as controls - excluded if aged less than 16 years old.\n* Individuals participating as controls - excluded if unable to consent for themselves.\n* Individuals diagnosed with a genetic disease - unable to provide informed consent either by themselves or through an appropriate nearest relative, legal guardian or welfare attorney.","1 Year","120 Years",{"count":22,"type":23},"Recent advances have shown that cells from human blood, skin and urine samples can be reprogrammed to become stem cells. These are called induced Pluripotent Stem Cells (iPSCs) and share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to become any cell in the body. Beneficially, the use of iPSCs avoids the ethical difficulties which surround embryonic stem cells and allows generation of iPSC lines which are disease representative. For example, we could take skin samples from an individual diagnosed with Huntington's disease and their unaffected sibling and using this technology, generate iPSC lines from both individuals. Using these iPSCs, we could produce disease affected cell populations from the affected and unaffected individuals, use these cells to research why specific cell populations are affected by disease and test new treatments to combat disease progression, essentially producing a 'disease in a dish'. This is just one example of many for which this technology could be applied. We can also utilise gene-editing techniques to generate isogenic controls or insert disease related mutations to assess disease phenotype.\n\nAlthough generation of iPSC lines has been robustly proven across multiple disease backgrounds, many aspects of their downstream use still remain to be determined. Particularly, robust protocols for directing iPSCs towards cell fates such as neurons or blood cells must be developed to fully realise application of iPSCs in disease modelling and drug screening.\n\nThis study involves the collection of human blood, skin or urine samples from subjects bearing a range of genetic diseases alongside those from individuals who have not been diagnosed with a disease, as controls. These samples will be used to generate iPSC lines for development of differentiation and disease phenotyping protocols.",[30],"2026-05-11",{"date":220,"type":48},{"date":242,"type":48},"2018-11-01",{"date":244,"type":23},"2028-07-01",{"name":246,"class":247},"Sapna Vyas","INDUSTRY",{"id":249,"slug":250,"hasResults":12,"nctId":251,"briefTitle":252,"officialTitle":252,"acronym":253,"eligibilityCriteria":254,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":255,"targetDuration":234,"studyType":25,"phases":4,"briefSummary":256,"conditions":257,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":259,"lastUpdatePostDateStruct":260,"startDateStruct":261,"completionDateStruct":263,"leadSponsor":265,"locationsCount":82},"100496725","genetic-disorders-of-obesity-program-database-100496725","NCT05747976","Genetic Disorders of Obesity Program Database","GDOP","Inclusion Criteria:\n\n* For individuals 2 years and older, BMI \\> 97 percentile\n* For individuals \\\u003C 2 years old, weight-to-length ratio \\> 95th percentile\n\nExclusion Criteria:\n\n* No other exclusion criteria",{"count":205,"type":23},"This study collects data on children with severe, early-onset obesity.",[258,30],"Obesity, Childhood","2026-05-07",{"date":218,"type":48},{"date":262,"type":48},"2020-08-30",{"date":264,"type":23},"2030-12-31",{"name":266,"class":55},"Baylor College of Medicine",{"id":268,"slug":269,"hasResults":12,"nctId":270,"briefTitle":271,"officialTitle":272,"acronym":4,"eligibilityCriteria":273,"healthyVolunteers":125,"sex":18,"minAge":24,"maxAge":274,"enrollmentInfo":275,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":277,"conditions":278,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":280,"lastUpdatePostDateStruct":281,"startDateStruct":283,"completionDateStruct":285,"leadSponsor":287,"locationsCount":82},"100468926","adaptive-optics-retinal-imaging-in-inherited-and-acquired-retinal-disorders-100468926","NCT05386134","Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders","Adaptive Optics Imaging in Retinal Disorders","Inclusion Criteria:\n\n1. Consent provided\n2. Aged 5 - 70 years\n3. Diagnosed with well documented retinal disorder\n\nControl group Inclusion Criteria:\n\n1. Subjects aged 5 years - 70 years with normal eye examination.\n2. Patients with strabismus and otherwise normal visual acuity and eye examination\n3. Patients with unilateral eye diseases such as cataract, with a normal eye exam in the fellow eye.\n\nExclusion Criteria:\n\n1. Inability of the subject to maintain a stable position while seated\n2. Uncontrolled nystagmus, trembling or movements of the eyes or the head\n3. Presence of cataract or any opacity in the front of the eye that obscures retinal imaging\n4. Any general disease such neurological disease which could affect vision and the retina.\n5. History of previous uveitis, glaucoma, previous intra-ocular surgery or photodynamic therapy\n6. High refractive errors (\\> +15D or \\\u003C -15D) that cannot be corrected by the adaptive optics system.\n7. Patients who have a history of photosensitivity or take any medicine that cause photosensitivity as a side effect\n8. Patients who are aphakic after cataract surgery","70 Years",{"count":276,"type":23},200,"This is a Prospective Observational study. The aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders. The study would use adaptive optics (AO) technology to assist in-vivo visualization of these retinal structures and ascertain changes from normal. Further, by using the AO imaging in patients before and after treatments, this study aims to better understand the effect of various interventions and develop AO as an outcome measure in various retinal disorders.",[30,279],"Inherited Disease","2026-04-22",{"date":282,"type":48},"2026-04-28",{"date":284,"type":48},"2022-06-13",{"date":286,"type":23},"2033-06-13",{"name":288,"class":55},"The Hospital for Sick Children",{"id":290,"slug":291,"hasResults":12,"nctId":292,"briefTitle":293,"officialTitle":293,"acronym":4,"eligibilityCriteria":294,"healthyVolunteers":125,"sex":18,"minAge":295,"maxAge":4,"enrollmentInfo":296,"targetDuration":297,"studyType":25,"phases":4,"briefSummary":298,"conditions":299,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":301,"lastUpdatePostDateStruct":302,"startDateStruct":304,"completionDateStruct":306,"leadSponsor":308,"locationsCount":82},"100554849","the-natural-history-of-mitochondrial-diseases-100554849","NCT06504433","The Natural History of Mitochondrial Diseases","Inclusion Criteria:\n\n1. A clinical and\u002For genetically confirmed diagnosis of MITO.\n2. Individuals \\> 18 years of age, managed by a specialist neurologist, with confirmed MITO\n3. Control participants will comprise asymptomatic relatives of confirmed MITO patients with no clinical or genetic evidence of MITO; clinically confirmed non-MITO movement disease controls (from other clinics at NeuRA) or age\u002Fgender-matched healthy participants.\n\nExclusion Criteria:\n\n* Those participants who do NOT match the inclusion criteria above\n* Not willing to participate in the AMDC Clinical Registry\n* Not willing to undergo genetic testing\n* Not willing to provide consent","18 Years",{"count":205,"type":23},"10 Years","The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases)\n\nThe goal of this observational study (non-randomised retrospective and prospective) is to fully characterise primary MITO disease; that includes both sexes\u002Fgenders, over 18 years of age and healthy volunteers\\]. The main question\\[s\\] it aims to answer is to:\n\n• better characterise MITO phenotypes (organ involvement, severity, progression) and collect biospecimens to create a biobank that can be used for future biomarker discovery to improve early diagnosis, prognostication and management of mitochondrial disease.\n\nThe study will be a longitudinal, retrospective, prospective, observational study of participants (400) with confirmed MITO and relevant controls followed for up to 10 years. Data will be collected at regularly scheduled standard-of-care (SOC), 6 to 12 monthly appointments.\n\nThe 100 control participants will therefore be comprised of (i) unaffected asymptomatic family members of MITO participants with no genetic risk; (ii) participants with non-MITO movement disorders that are not classified as MITO by their clinical presentation and genetic tests (for example Parkinson's disease) and\u002For (iii) age-matched healthy controls recruited from the NeuRA database of volunteers.\n\nDemographic data, medical history, biochemical, histological, genetic, social and other clinical SOC data will be collected. Additionally, seizure and migraine frequency in participants who experience these, will be collected and a quality-of-life questionnaire (SF-12v2), as part of the validated neurological assessment using the Newcastle Mitochondrial Disease Adult Scale (NMDAS).",[300,209,30],"Mitochondrial Diseases","2026-04-15",{"date":303,"type":48},"2026-04-20",{"date":305,"type":48},"2024-05-07",{"date":307,"type":23},"2034-05-07",{"name":309,"class":55},"Neuroscience Research Australia",{"id":311,"slug":312,"hasResults":12,"nctId":313,"briefTitle":314,"officialTitle":314,"acronym":315,"eligibilityCriteria":316,"healthyVolunteers":125,"sex":18,"minAge":317,"maxAge":235,"enrollmentInfo":318,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":320,"conditions":321,"keywords":326,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":328,"lastUpdatePostDateStruct":329,"startDateStruct":331,"completionDateStruct":333,"leadSponsor":335,"locationsCount":82},"100467248","molecular-diagnosis-of-systemic-autoinflammatory-diseases-100467248","NCT05364294","Molecular Diagnosis of Systemic Autoinflammatory Diseases","SAIDiag","Inclusion Criteria:\n\n* A patient presenting with a clinical and biological aseptic inflammatory syndrome associating one or more of the following signs: spontaneously resolving fever, abdominal (pain, diarrhea), locomotor (arthralgia, myalgia), thoracic (pain, pericarditis), cutaneous, sensory (uveitis, deafness), or renal (amyloidosis) involvement.\n\nExclusion Criteria:\n\n* Adult subject to legal protection measures (guardianship, curatorship, safeguard of justice).","1 Week",{"count":319,"type":23},300,"Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.",[322,30,323,324,325],"Inflammatory Disease","Somatic Mutation","Molecular Sequence Variation","Molecular Pathway Deregulation",[327],"Biomarkers","2026-03-04",{"date":330,"type":48},"2026-03-05",{"date":332,"type":48},"2022-05-18",{"date":334,"type":23},"2033-05-02",{"name":336,"class":81},"Institut National de la Santé Et de la Recherche Médicale, France",{"id":338,"slug":339,"hasResults":12,"nctId":340,"briefTitle":341,"officialTitle":341,"acronym":4,"eligibilityCriteria":342,"healthyVolunteers":125,"sex":18,"minAge":295,"maxAge":4,"enrollmentInfo":343,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":344,"conditions":345,"keywords":348,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":353,"lastUpdatePostDateStruct":354,"startDateStruct":356,"completionDateStruct":358,"leadSponsor":360,"locationsCount":82},"100308137","cuhk-stroke-biobank-100308137","NCT03291392","CUHK Stroke Biobank","Inclusion Criteria:\n\n1. Adult equal or more 18 years of age and Chinese ONLY.\n2. Stroke patients, their family members, and\u002For the normal subjects without intracranial stenosis or extracranial stenosis, are eligible to join the study.\n3. Subject is willing to have blood taken, cerebral spinal fluid and\u002For body tissue drawn for storage in the research bank.\n\nExclusion Criteria:\n\n* None",{"count":205,"type":23},"The purpose of the study are:\n\n1. To make quality, characterized samples and related data available for future studies, including Genome Wide Association Studies (GWAS), genomics, and biomarker research;\n2. To use these samples and related medical information to answer research questions aimed at understanding the genetics and underlying biology of acquired disease and injury to the brain, heart and blood vessels with the express purpose of advancing the search for effective modalities for prevention, treatment, and recovery;\n3. To develop additional operational infrastructure to support this project across the Prince of Wales Hospital and divisions, including (1) tracking of patient consent, (2) management of collection and sample processing processes, (3) sample inventory and QC\u002FQA processes, and (4) release of materials to investigators for further research.",[346,30,347],"Stroke, Ischemic","Atherosclerosis, Cerebral",[349,350,351,352],"Genetics","Stroke","Biobank","Atherosclerosis","2026-02-21",{"date":355,"type":48},"2026-02-24",{"date":357,"type":48},"2015-06-15",{"date":359,"type":23},"2027-12-31",{"name":361,"class":55},"Chinese University of Hong Kong",{"id":363,"slug":364,"hasResults":12,"nctId":365,"briefTitle":366,"officialTitle":366,"acronym":367,"eligibilityCriteria":368,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":369,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":371,"conditions":372,"keywords":376,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":382,"lastUpdatePostDateStruct":383,"startDateStruct":385,"completionDateStruct":387,"leadSponsor":388,"locationsCount":82},"100479881","delineating-the-molecular-spectrum-and-the-clinical-imaging-and-neuronal-phenotype-of-chopra-amiel-gordon-syndrome-100479881","NCT05528744","Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome","CAGS NHS","Inclusion Criteria:\n\n* Participants must have a variant in ANKRD17 with a classification of VUS, likely pathogenic, or pathogenic\n* Participants with a known diagnosis or CAGS have a disease-causing (likely pathogenic or pathogenic) variant in ANKRD17 evidenced by a pre-existing clinical genetic report.\n* Participants with a suspected diagnosis of CAGS must have a variant of uncertain significance in ANKRD17 evidenced by a pre-existing clinical genetic report and clinical features of CAGS\n* Participants with a VUS in ANKRD17 must have a variant of uncertain significance in ANKRD17\n\nExclusion Criteria:\n\n* No evidence of a disease-causing or potentially disease-causing variant ANRKD17 variant on a pre-existing clinical genetic report.",{"count":370,"type":23},125,"The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the brain seen on imaging, and learning difficulties that individuals with this disorder may experience. The investigators will obtain medical history, family history, MRI records, patient photographs, genetic test results, neurobehavioral and quality of life questionnaires from individuals with confirmed or suspected CAGS at annual research visits. Participants may also complete standardized research neurobehavioral assessments, research EEGs, and sample collections at each visit. This data will be maintained on a secure research database. Samples collected will be used for functional testing and the generation of iPSC cell lines, for neuronal reprogramming and phenotyping.",[30,373,374,375],"Chopra-Amiel-Gordon Syndrome","CAGS","ANKRD17",[377,378,379,375,380,374,381],"Syndrome","Neurodevelopmental","ANKRD17 Loss of function","Rare Disease","Chopra-Amiel-Gordon","2026-02-12",{"date":384,"type":48},"2026-02-17",{"date":386,"type":48},"2022-08-27",{"date":115,"type":23},{"name":389,"class":55},"Boston Children's Hospital",{"id":391,"slug":392,"hasResults":12,"nctId":393,"briefTitle":394,"officialTitle":395,"acronym":4,"eligibilityCriteria":396,"healthyVolunteers":125,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":397,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":399,"conditions":400,"keywords":401,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":404,"lastUpdatePostDateStruct":405,"startDateStruct":407,"completionDateStruct":409,"leadSponsor":410,"locationsCount":82},"100621025","accurate-assessment-and-intervention-research-on-newborn-whole-genome-sequencing-and-genetic-disease-risk-100621025","NCT07365254","Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk","Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk(China Baby Omics)","Inclusion Criteria:\n\n* Families with ongoing pregnancies (via assisted reproductive therap or natural conception) and newborn infants.\n\nExclusion Criteria:\n\n* None",{"count":398,"type":23},1000000,"Maternal and infant health is the foundation of public health, and its status directly reflects the overall health level of the population. With rapid socioeconomic development and increasingly severe environmental issues, health problems among women and children have become more widespread and diverse. In the new era, maternal and child health faces new challenges, with higher demands in areas such as reproductive health promotion, birth defect prevention, maternal and infant safety, and childhood disease prevention. Cohort studies, as an epidemiological research method for exploring disease etiology, involve recruiting participants before or during pregnancy and conducting follow-ups on pregnancy, childbirth, and maternal and child health outcomes after birth to identify various factors influencing diseases and health. Focusing on the early stages of life, this approach is an effective method for studying the associations between environmental, genetic, and behavioral risk factors during early life and embryonic development, fetal health, and infant health.\n\nThis project plans to conduct long-term follow-ups on couples and their offspring on a family basis, while collecting biological samples at multiple time points. A systematic multi-dimensional assessment, based on clinical information and multi-omics data from the enrolled population, will be used to infer the causes of reproductive and pregnancy-related diseases and developmental abnormalities, identify new biomarkers for pregnancy-related diseases, establish predictive models, and recognize risk factors in the early life of offspring, thereby providing guidance for the prevention and control of reproductive and developmental diseases.",[30],[402,403],"Newborn","Multiomics","2026-01-15",{"date":406,"type":48},"2026-01-26",{"date":408,"type":48},"2025-02-14",{"date":264,"type":23},{"name":411,"class":55},"Women's Hospital School Of Medicine Zhejiang University",{"id":413,"slug":414,"hasResults":12,"nctId":415,"briefTitle":416,"officialTitle":417,"acronym":418,"eligibilityCriteria":419,"healthyVolunteers":125,"sex":18,"minAge":234,"maxAge":4,"enrollmentInfo":420,"targetDuration":4,"studyType":66,"phases":422,"briefSummary":423,"conditions":424,"keywords":427,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":432,"lastUpdatePostDateStruct":433,"startDateStruct":435,"completionDateStruct":437,"leadSponsor":439,"locationsCount":441},"100549549","biocollection-of-rare-pediatric-onset-of-autoimmune-and-autoinflammatory-diseases-100549549","NCT06435468","Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases","Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases","GENIALII","Inclusion Criteria:\n\n* Patients\n* minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\\u003C18 years), or syndromic or familial\n* relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\\u003C18 years of age) or syndromic or familial,\n* weight greater than 5 kg\n* Patient\u002Fparents\u002Fguardians who were informed of the study and signed the consent form.\n* patient affiliated to a social security scheme\n\nHealthy volunteer participants\n\n* minor or adult participants with no age restrictions\n* weight over 5 kg\n* Subject \u002FParents\u002Fguardians who were informed of the study and signed a consent form.\n* Patient affiliated to a social security scheme\n\nExclusion Criteria:\n\nPatients\n\n\\- Subjects \u002FParents\u002Fguardians, refusing to participate in the study\n\nHealthy volunteer participants :\n\n* active infection (viral, bacterial, parasitic)\n* history of neoplasia (\\\u003C 5 years) or current neoplasia\n* participants with a personal or family history of autoimmune disease\n* immunocompromised participant (immune deficiency or transplant recipient)\n* Subjects\u002Fparents\u002Fguardians refusing to participate in the study\n* Adults under legal protection (guardianship, curatorship)",{"count":421,"type":23},400,[68],"Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges.\n\nThis study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.",[425,210,426,30],"Systemic Lupus","Autoinflammatory Disease",[425,428,429,430,431],"Genetic","rare autoimmune disease","rare autoinflammatory diseases","Pediatric-onset disease","2025-12-15",{"date":434,"type":48},"2025-12-22",{"date":436,"type":48},"2025-02-26",{"date":438,"type":23},"2035-07-27",{"name":440,"class":55},"Hospices Civils de Lyon",13,{"id":443,"slug":444,"hasResults":12,"nctId":445,"briefTitle":446,"officialTitle":447,"acronym":4,"eligibilityCriteria":448,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":449,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":451,"conditions":452,"keywords":455,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":459,"lastUpdatePostDateStruct":460,"startDateStruct":462,"completionDateStruct":464,"leadSponsor":466,"locationsCount":467},"100558810","stxbp1-and-syngap1-related-disorders-natural-history-study-100558810","NCT06555965","STXBP1 and SYNGAP1 Related Disorders Natural History Study","STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study","Inclusion Criteria:\n\n* Male or female of any age.\n* Presence of a STXBP1 or SYNGAP1 gene mutation. The variant in STXBP1 or SYNGAP1 must be classified as causative based on clinical and variant classification criteria. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained, if necessary, at baseline and performed by a CLIA certified laboratory.\n\nExclusion Criteria:\n\n* The presence of a confirmed mutation in a gene other than STXBP1 or SYNGAP1 that is known to contribute to a neurodevelopmental disability. This includes full gene deletions of STXBP1 or SYNGAP1 that include other genes beyond STXBP1 or SYNGAP1.\n* The presence of a significant non-STXBP1-RD or non-SYNGAP1-RD related central nervous impairment\u002Fbehavioral disturbance that would confound the scientific rigor or interpretation of results of the study.\n* History of intraventricular hemorrhage, structural brain deficit or congenital heart disease\n* The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.\n* Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.",{"count":450,"type":23},600,"The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.",[30,453,454],"STXBP1 Encephalopathy With Epilepsy","SYNGAP1-Related Intellectual Disability",[456,134,457,458],"STXBP1","Clinical Research","SYNGAP1","2025-10-28",{"date":461,"type":48},"2025-10-29",{"date":463,"type":48},"2023-08-30",{"date":465,"type":23},"2028-12-30",{"name":117,"class":55},5,{"id":469,"slug":470,"hasResults":12,"nctId":471,"briefTitle":472,"officialTitle":473,"acronym":474,"eligibilityCriteria":475,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":476,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":478,"conditions":479,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":480,"lastUpdatePostDateStruct":481,"startDateStruct":483,"completionDateStruct":485,"leadSponsor":487,"locationsCount":82},"100229593","biobank-clinical-genetics-maastricht-kg01-100229593","NCT02266615","Biobank Clinical Genetics Maastricht (KG01)","Biobank Clinical Genetics Maastricht","KG01","Inclusion Criteria:\n\n* New patients visiting the out patient clinic of the department of Clinical Genetics of the Maastricht University Medical Hospital\n* Withdrawal of body material for genetic diagnostics.\n\nExclusion Criteria:\n\n* Patient does not understand the Dutch language.",{"count":477,"type":23},3600,"Collection of coded biomaterial and clinical data with patients consent for future research.",[30],"2025-10-02",{"date":482,"type":48},"2025-10-06",{"date":484,"type":4},"2014-09",{"date":486,"type":23},"2035-01",{"name":488,"class":55},"Maastricht University Medical Center",{"id":490,"slug":491,"hasResults":12,"nctId":492,"briefTitle":493,"officialTitle":493,"acronym":4,"eligibilityCriteria":494,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":495,"enrollmentInfo":496,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":498,"conditions":499,"keywords":4,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":502,"lastUpdatePostDateStruct":503,"startDateStruct":505,"completionDateStruct":507,"leadSponsor":509,"locationsCount":82},"100251381","genomic-sequencing-and-personalized-treatment-for-birth-defects-in-neonatal-intensive-care-units-100251381","NCT02551081","Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units","Inclusion Criteria:\n\nOne of the following criteria required.\n\n1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals\n2. Clinical genetic testing or a genetic consult is ordered\n3. Subject has one major structural anomaly or three or more minor anomalies\n4. Abnormal laboratory testing suggestive of a genetic disease\n5. Abnormal response to standard therapy for a major underlying condition\n\nExclusion Criteria:\n\n1. Previously performed exome\u002Fgenome sequencing on patient\n2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood\n3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)\n4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician\n5. Parents refuse consent","28 Days",{"count":497,"type":23},2000,"The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.",[30,500,501],"Multiple Malformation","Congenital Malformation","2025-09-03",{"date":504,"type":48},"2025-09-05",{"date":506,"type":48},"2015-10-01",{"date":508,"type":23},"2025-12-30",{"name":510,"class":55},"Children's Hospital of Fudan University",{"id":512,"slug":513,"hasResults":12,"nctId":514,"briefTitle":515,"officialTitle":515,"acronym":4,"eligibilityCriteria":516,"healthyVolunteers":125,"sex":18,"minAge":91,"maxAge":4,"enrollmentInfo":517,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":519,"conditions":520,"keywords":523,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":528,"lastUpdatePostDateStruct":529,"startDateStruct":531,"completionDateStruct":533,"leadSponsor":535,"locationsCount":537},"100534358","a-comparative-analysis-of-speech-perception-between-cochlear-implant-patients-and-dfnb9-patients-receiving-gene-therapy-100534358","NCT06237790","A Comparative Analysis of Speech Perception Between Cochlear Implant Patients and DFNB9 Patients Receiving Gene Therapy","Inclusion Criteria:\n\n* Patients with congenital hearing loss with hearing thresholds ≥65 dB receive either gene therapy (previously received gene therapy and standardized postoperative rehabilitation and follow-up or plan to receive gene therapy), or cochlear implant surgery. Healthy participants with bilateral hearing thresholds within the normal range (≤20 dB), generally matched to the gene therapy group and the cochlear implant group by age and sex.\n* Age ≥ 6 months old, regardless of gender.\n* Mandarin Chinese as the native language.\n* Participants and their guardians must provide informed consent before the trial, voluntarily sign a written consent form, and commit to follow-up at specified time points.\n* Capable of effective communication with researchers under the guardian's assistance and willing to cooperate and comply with the researchers' requirements.\n* The participant's guardians should have a correct understanding of the trial and appropriate expectations regarding potential benefits.\n\nExclusion Criteria:\n\n* Presence of other otological disorders that may interfere with the surgical outcome or interpretation of study endpoints, such as middle\u002Finner ear dysplasia or malformations that affected the therapeutic effect revealed in CT\u002FMRI scans within 3 months, vestibular-cochlear nerve abnormalities, acute\u002Fchronic otitis media, Meniere's disease, etc.\n* Presence of other severe congenital diseases.\n* Presence of severe systemic diseases or in the acute onset of diseases, such as pulmonary tuberculosis, active hepatitis B or C infection, active herpes zoster infection, pancreatitis, renal insufficiency, etc.\n* Individuals with low immunity, a history of immune deficiency or organ transplantation.\n* Individuals with a history of neurological or mental disorders, such as epilepsy or dementia.\n* Patients with contraindications for surgery or anesthesia assessed by a surgeon, anesthetist, or designated personnel, such as cardiovascular or cerebrovascular events in the past 6 months, allergies to the planned medications, etc.\n* Gene therapy group: gene therapy did not restore hearing; Cochlear implant group: presence of hereditary syndromic deafness or other conditions that seriously affect the efficacy evaluation.\n* Any other conditions for which the investigators consider the subject unsuitable for participation in this clinical study.",{"count":518,"type":23},180,"This cohort study aims to explore the trends and differences in multidimensional perceptual levels of patients after cochlear implants or gene therapy, as well as to comprehensively assess the efficacy of gene therapy for congenital deafness, thus providing a reference for making a well-rounded postoperative rehabilitation protocol for gene therapy patients.",[521,30,522],"Hearing Loss","Speech Perception",[524,525,526,527,522],"Congenital Hearing Loss","DFNB9","Gene Therapy","Cochlear Implant","2025-08-27",{"date":530,"type":48},"2025-09-04",{"date":532,"type":48},"2024-04-06",{"date":534,"type":23},"2026-12-22",{"name":536,"class":55},"Eye & ENT Hospital of Fudan University",6,{"id":539,"slug":540,"hasResults":12,"nctId":541,"briefTitle":542,"officialTitle":542,"acronym":4,"eligibilityCriteria":543,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":544,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":546,"conditions":547,"keywords":550,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":553,"lastUpdatePostDateStruct":554,"startDateStruct":556,"completionDateStruct":558,"leadSponsor":560,"locationsCount":82},"100399183","follow-up-with-preimplantation-genetic-testing-patients-100399183","NCT04477863","Follow-up With Preimplantation Genetic Testing Patients","Inclusion Criteria:\n\n* Patients indicating willingness to participate in research during informed consent to perform PGT\n\nExclusion Criteria:\n\n* Patients who opted out of participating in research during informed consent to perform PGT",{"count":545,"type":23},10000,"The main purpose of this study is to perform longitudinal evaluations of clinical outcomes and personal perspectives following utilization of preimplantation genetic testing (PGT). Patients indicating willingness to participate in research during informed consent to perform PGT will be eligible for inclusion. A licensed genetic counselor will conduct a recorded interview.",[548,30,549],"Infertility","IVF",[551,552],"PGT","Follow-up","2025-08-19",{"date":555,"type":48},"2025-08-26",{"date":557,"type":48},"2020-07-11",{"date":559,"type":23},"2050-12-31",{"name":561,"class":247},"Genomic Prediction Inc.",{"id":563,"slug":564,"hasResults":12,"nctId":565,"briefTitle":566,"officialTitle":566,"acronym":567,"eligibilityCriteria":568,"healthyVolunteers":12,"sex":18,"minAge":569,"maxAge":20,"enrollmentInfo":570,"targetDuration":4,"studyType":66,"phases":572,"briefSummary":573,"conditions":574,"keywords":4,"overallStatus":575,"whyStopped":4,"lastUpdateSubmitDate":576,"lastUpdatePostDateStruct":577,"startDateStruct":579,"completionDateStruct":581,"leadSponsor":583,"locationsCount":82},"100602138","multicenter-study-of-patients-with-shank3-mutations-identification-of-genes-modificators-in-phelan-mcdermid-syndrome-euq13-100602138","NCT07119606","Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)","EUQ13","Inclusion Criteria:\n\n* Patient diagnosed with Phelan-McDermid syndrome as part of the etiological assessment of a neurodevelopmental disorder, regardless of age (and their parents, siblings, and grandparents).\n* For patients: identification of a deletion affecting SHANK3 or a specific, deleterious genetic variation in SHANK3.\n* Affiliation to a social security scheme or beneficiary.\n* Signature of the project consent form by the participant (if an adult) or by both legal guardians (if the participant is a minor or an adult under guardianship).\n\nExclusion Criteria:\n\n\\-","3 Months",{"count":571,"type":23},650,[68],"Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder with extensive clinical and genetic heterogeneity that is still poorly understood. The phenotype includes hypotonia, delayed psychomotor development, intellectual disability of varying severity, and consistent language impairment ranging from delayed to absent speech. Autism spectrum disorders are present in 60-80% of patients, and other comorbidities may be present. The major candidate gene for PMS is SHANK3, which encodes a scaffolding protein in the dense postsynaptic region of glutamatergic synapses. Its loss of function is caused by deletions in the distal region of chromosome 22, 22q13.3, or by intragenic genomic variants. Several studies, including the one conducted by our team, have shown that part of the variability in the phenotype is related to the size of the 22q13.3 deletion. However, two patients with a deletion of similar size or an identical point variation in SHANK3 can have phenotypes of very variable severity.\n\nThe existence of additional genomic variants not identified by standard diagnostic techniques, particularly DNA chip chromosomal analysis (ACPA), which may act as modulating elements of the phenotype, has been suggested.\n\nThe limitations of the proposed studies are the highly heterogeneous genomic tools used (variable DNA chip design in terms of probe distribution and resolution) and the often imprecise phenotypes. Our study will bring together a large number of SPM patients (related to a 22q13.3 deletion or a variation of the SHANK3 gene) as well as their parents and possible relatives (first or second degree of the patient), very well phenotyped and explored by complete genome sequencing on the same sequencing platform.",[30],"NOT_YET_RECRUITING","2025-08-05",{"date":578,"type":48},"2025-08-13",{"date":580,"type":23},"2025-09-01",{"date":582,"type":23},"2027-03-01",{"name":584,"class":55},"Assistance Publique - Hôpitaux de Paris",{"id":586,"slug":587,"hasResults":12,"nctId":588,"briefTitle":589,"officialTitle":589,"acronym":4,"eligibilityCriteria":590,"healthyVolunteers":12,"sex":591,"minAge":295,"maxAge":4,"enrollmentInfo":592,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":594,"conditions":595,"keywords":4,"overallStatus":575,"whyStopped":4,"lastUpdateSubmitDate":596,"lastUpdatePostDateStruct":597,"startDateStruct":599,"completionDateStruct":601,"leadSponsor":603,"locationsCount":4},"100601158","prenatal-cell-free-dna-screening-in-pregnancies-with-diverse-genetic-risk-profiles-utilizing-targeted-and-whole-exome-sequencing-100601158","NCT07106853","Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whole-exome Sequencing","Inclusion Criteria:\n\n* Adult pregnant woman (≥18 years old)\n* Gestational age between 9+0 and 25+6 weeks\n* Singleton pregnancy\n* Pregnancy with indications for prenatal diagnosis due to:\n\n  * Increased nuchal translucency (NT) ≥3.5 mm: capped at 25% of total subjects\n  * Increased NT ≥3.5 mm AND presence of any other \"soft marker\" or structural anomaly: capped at 25% of total subjects\n  * Presence of structural anomaly: at least 50% of total subjects\n* Agree to participate in the clinical study for being followed-up and accept at least one molecular diagnosis (diagnostic procedures performed on prenatal invasive specimens, product of conception, umbilical cord blood, or other specimens) and possible family member testing\n\nExclusion Criteria:\n\n* Age under 18 years\n* Gestational age is less than 9+0 weeks or greater than 25+6 weeks\n* One parent or other family member has a known pathogenic variant linked to the fetal ultrasound finding(s)\n* Conditions affecting the accuracy of cfDNA assay (e.g., maternal malignancy during pregnancy, maternal allogeneic blood transfusion, organ transplantation, or cell therapy within the past year)","FEMALE",{"count":593,"type":23},1600,"This multicenter study aims to recruit a minimum of 1,600 pregnant women, encompassing individuals with varying levels of genetic risk. The study particularly focuses on cases with increased fetal nuchal translucency (NT ≥3.5 mm), additional ultrasound markers, and\u002For fetal structural anomalies. Peripheral blood samples of eligible participants will be collected for two state-of-the-art cfDNA tests based on coordinative allele-aware target enrichment sequencing (COATE-seq): (1) a targeted panel to screen for frequent chromosomal aneuploidies, microdeletions\u002Fduplications, and dominant single-gene conditions, and (2) comprehensive whole-exome cfDNA sequencing for aneuploidies, microdeletions\u002Fduplications, monogenic variants (both dominant and recessive variants), uniparental disomy, and hydatidiform moles. The results of both cfDNA tests will be compared with those from invasive or postnatal diagnostic testing. Pregnancy outcome will be followed up to six weeks postpartum. The primary goal is to determine the clinical validity of targeted and whole exome cfDNA analyses, assessed through sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) relative to diagnostic standards. Secondary goal is to assess efficacy across diverse genetic risk populations by analyzing detection rates of pathogenic variants associated with fetal indications. The clinical utility of cfDNA screening will also be evaluated by its impact on clinical management decisions, including follow-up diagnostic procedures or prenatal\u002Fperinatal interventions.",[30],"2025-07-29",{"date":598,"type":48},"2025-08-06",{"date":600,"type":23},"2025-08-01",{"date":602,"type":23},"2027-05-31",{"name":411,"class":55},{"id":605,"slug":606,"hasResults":12,"nctId":607,"briefTitle":608,"officialTitle":608,"acronym":609,"eligibilityCriteria":610,"healthyVolunteers":12,"sex":18,"minAge":295,"maxAge":4,"enrollmentInfo":611,"targetDuration":4,"studyType":25,"phases":4,"briefSummary":612,"conditions":613,"keywords":617,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":618,"lastUpdatePostDateStruct":619,"startDateStruct":621,"completionDateStruct":623,"leadSponsor":625,"locationsCount":627},"100484392","investigating-hereditary-risk-in-thoracic-cancers-inherit-100484392","NCT05587439","Investigating Hereditary Risk In Thoracic Cancers (INHERIT)","INHERIT","Inclusion Criteria:\n\n* Cohort 1: individuals with or with high risk of carrying an EGFR T790M or other EGFR germline variant identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members.\n\n  * Participants with variants of uncertain significance may be eligible at the PI's discretion\n* Cohort 2: individuals with or with high risk of carrying non-EGFR germline variants suggestive of a potential inherited lung cancer risk, identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members.\n\n  * Participants with variants of uncertain significance may be eligible at the PI's discretion\n* Cohort 3: individuals with lung cancer who are not known to carry a pathogenic or likely pathogenic variant, and with one of the following:\n\n  * first-degree relative with lung cancer\n  * multi-generational family history of lung cancer\n  * personal history of multiple primary lung cancers or other neoplasms\n  * multifocal lung cancer This includes both probands and their families.\n* For each cohort, the following applies:\n\n  * May include blood relatives of individuals with the aforementioned variants or family history, who may be presumed obligate carriers or healthy controls\n  * Deceased patients may be included in the study. Pathology specimens and public records, such as death certificates, may be used to confirm information. If medical records and\u002For pathology specimens are needed, consent will be obtained from the descendant's next-of-kin. Next-of-kin refers to the following hierarchy of relatives: spouse, offspring, parents, and siblings. (Any further use of \"next-of-kin\" in this protocol refers to this hierarchy).\n  * Data and specimens from previously consented eligible individuals (under Dana-Farber IRB protocol #12-360) will also be deposited into the study database and specimen banks from other investigators as long as their consents permit sharing of specimens and data. It is estimated that approximately 150 individuals may qualify under these criteria.\n  * Some of the variants identified initially through germline testing may ultimately be shown to not be germline but rather somatic mosaic (ACE or CHIP). These individuals will remain in the study cohort but will not be asked for ongoing questionnaire or repeat specimen donation\n\nExclusion Criteria:\n\n* Individuals who decline to consent\n* Individuals who are unable to give consent or assent and are without a designated healthcare proxy",{"count":205,"type":23},"The purpose of this research study is to learn more about the inherited risk for developing lung cancer.",[614,30,615,616],"Lung Cancer","Genetic Predisposition","Hereditary Diseases",[614,30,615,616],"2025-07-07",{"date":620,"type":48},"2025-07-10",{"date":622,"type":48},"2023-01-01",{"date":624,"type":23},"2027-11-01",{"name":626,"class":55},"Dana-Farber Cancer Institute",2,{"id":629,"slug":630,"hasResults":12,"nctId":631,"briefTitle":632,"officialTitle":632,"acronym":633,"eligibilityCriteria":634,"healthyVolunteers":12,"sex":18,"minAge":635,"maxAge":636,"enrollmentInfo":637,"targetDuration":4,"studyType":66,"phases":639,"briefSummary":640,"conditions":641,"keywords":644,"overallStatus":44,"whyStopped":4,"lastUpdateSubmitDate":649,"lastUpdatePostDateStruct":650,"startDateStruct":652,"completionDateStruct":654,"leadSponsor":655,"locationsCount":82},"100553787","phase-2-unraveling-the-impact-of-thalidomide-at-diverse-doses-in-transfusion-dependent-beta-thalassemia-100553787","NCT06490627","Unraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia","BTM","Inclusion Criteria:\n\n* Know case of beta thalassemia major\u002F intermediate ( transfusion dependent)\n* willing to give informed consent\n\nExclusion Criteria:\n\n* Patients with comorbidities such as liver dysfunction\n* Married patients\n* Lactating mother\n* H\u002FO thrombosis and fits","8 Years","35 Years",{"count":638,"type":23},54,[96],"The project \"Unraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia\" investigates the safety and efficacy of low-dose thalidomide in managing beta thalassemia, a genetic disorder causing anemia. Conducted over two years at NIBD hospital, the study involves 54 transfusion-dependent patients aged 8-35. The primary objective is to correlate thalidomide doses with disease severity, adverse effects, and treatment response, aiming to optimize treatment strategies and reduce side effects.\n\nData will be collected through clinical interviews and medical record reviews and analyzed using SPSS. Key variables include hemoglobin levels, leukocyte and reticulocyte counts, platelets, liver and spleen size, genetic modifiers, and transfusion frequency. Inclusion criteria are specific to beta thalassemia patients, while exclusion criteria rule out those with liver dysfunction, married patients, lactating mothers, and those with a history of thrombosis or fits.",[642,643,30],"Fetal Hemoglobin","Thalassemia Major",[645,646,647,648],"thalidomide","safety and efficacy","thalassemia","fetal hemoglobin inducer","2025-05-26",{"date":651,"type":48},"2025-05-30",{"date":653,"type":48},"2024-04-22",{"date":280,"type":23},{"name":656,"class":81},"National Institute of Blood and Marrow Transplant (NIBMT), Pakistan"]