[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-diseases":35},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,9,0,[8,69,101,137,149,179,206,229,260],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":42,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":4},"100053565","phase-3-a-phase-3-study-to-evaluate-the-safety-and-efficacy-of-aoc-1044-also-referred-to-as-delpacibart-zotadirsen-in-participants-with-dmd-with-gene-mutations-amenable-to-exon-44-skipping-100053565",false,"NCT07587242","A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping","A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Global Study With an Open-Label Extension to Evaluate the Efficacy and Safety of Intravenous AOC 1044 (Delpacibart Zotadirsen) for the Treatment of DMD With Gene Mutations Amenable to Exon 44 Skipping","SAFARI44","Key Inclusion Criteria:\n\n* Ambulatory males with clinical and genetic diagnosis of DMD\n* Acceptable genetic test confirming dystrophin gene mutation amenable to exon 44 skipping\n* 7 to 16 years of age at time of consent\n* TTR and NSAA assessment completed within the protocol specified parameters at Screening\n* On a stable regimen of corticosteroids (including Vamolorone) for at least 6 months prior to Day 1. Steroid regimen must be anticipated to remain stable.\n\nKey Exclusion Criteria:\n\n* Previous treatment cell or gene therapy.\n* Treatment with another oligonucleotide within 6 months of informed consent (not including COVID-19 RNA vaccines).\n* Lab values outside of the protocol specified range at Screening\n* If on any of the following treatments (growth hormone, testosterone or givinostat), participants must be on a stable regimen and must plan to maintain it for the duration of the study. Participants will be excluded if regimen stability prior to informed consent is as follows:\n* Less than 1 month, for growth hormone and\u002For testosterone\n* Less than 6 months for givinostat","MALE","7 Years","16 Years",{"count":21,"type":22},70,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3","A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping",[28,29,30,31,32,33,34,35,36,37,38,39,40,41],"Muscular Dystrophies","Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy)","Muscular Disorders, Atrophic","Muscular Disease","Musculoskeletal Diseases","Neuromuscular Diseases (NMD)","Nervous System Diseases","Genetic Diseases","X-Linked","Hereditary","Neonatal Disease","Duchene Muscular Dystrophy","Congenital","DMD",[43,44,45,46,47,48,49,50,15,51,52,53,54,55,56,41],"AOC","AOC 1044","AOC 1044-CS3","AOC 1044-CS1","AOC 1044-CS2","EXPLORE44","EXPLORE44-OLE","SAFARI","SAFARI 44","Avidity","Avidity Biosciences","Exon Skipping Therapy","Avidity Biosciences Inc., A Novartis Company","del-zota","NOT_YET_RECRUITING","2026-07-10",{"date":60,"type":61},"2026-07-13","ACTUAL",{"date":63,"type":22},"2026-06",{"date":65,"type":22},"2030-07",{"name":67,"class":68},"Avidity Biosciences, Inc.","INDUSTRY",{"id":70,"slug":71,"hasResults":11,"nctId":72,"briefTitle":73,"officialTitle":74,"acronym":4,"eligibilityCriteria":75,"healthyVolunteers":11,"sex":76,"minAge":77,"maxAge":4,"enrollmentInfo":78,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":81,"conditions":82,"keywords":84,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":100},"100259000","genetic-and-metabolic-disease-in-children-100259000","NCT02650622","Genetic and Metabolic Disease in Children","Genetic Regulators of Metabolism and Development in Children","Inclusion criteria of Cohort 1- Newborn:\n\n* Subjects aged 1-2 days\n* Subjects with gestational age 37-42 weeks\n* Subjects with stable clinical status (admitted to normal newborn nursery)\n\nInclusion criteria of Cohort 2 - Older children:\n\n• Subjects aged 0-18 years\n\nInclusion criteria of Cohort 3 - Diseased children:\n\nSubjects (no age limit) with ANY phenotype as below:\n\n* Confirmed metabolic or genetic diseases\n* Suspected metabolic or genetic diseases\n* Episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia, metabolic acidosis)\n* Developmental regression\n* Major congenital malformation\n* Other unexplained symptoms of potential genetic origin\n\nExclusion criteria of Cohort 1 - Newborn:\n\n* Subjects with gestational age \\\u003C37 weeks or \\>42 weeks\n* Subjects with overt signs of metabolic dysfunction, distress or genetic diseases including hypoglycemia, hyperglycemia, sepsis\u002Fshock, hypoxemia, or major congenital malformation\n* Subjects with mothers whose pregnancies were complicated by gestational diabetes, gestational hyperglycemia, gestational hypertension, preeclampsia, or any other major disorders.\n\nExclusion criteria of Cohort 2 - Older children:\n\n* Subjects with confirmed metabolic or genetic diseases\n* Subjects with suspected metabolic or genetic diseases\n* Subjects with episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia, metabolic acidosis)\n* Subjects with developmental regression\n* Subjects with major congenital malformation\n\nExclusion criteria of Cohort 3 - Diseased children No.","ALL","1 Day",{"count":79,"type":22},1550,"OBSERVATIONAL","This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics\u002FChildren's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.",[35,83],"Metabolic Diseases",[85,86,87,88],"Metabolism","Genetics","Metabolomics","Genomics","RECRUITING","2026-06-30",{"date":92,"type":61},"2026-07-02",{"date":94,"type":61},"2015-06",{"date":96,"type":22},"2030-05",{"name":98,"class":99},"University of Texas Southwestern Medical Center","OTHER",1,{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":106,"acronym":4,"eligibilityCriteria":107,"healthyVolunteers":108,"sex":76,"minAge":109,"maxAge":110,"enrollmentInfo":111,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":113,"conditions":114,"keywords":121,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":129,"lastUpdatePostDateStruct":130,"startDateStruct":131,"completionDateStruct":4,"leadSponsor":133,"locationsCount":136},"100054419","familial-mediterranean-fever-and-related-disorders-genetics-and-disease-characteristics-100054419","NCT00001373","Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics","An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases","* INCLUSION CRITERIA:\n\nThere are three populations that will be included in this study: subjects with known or suspected autoinflammatory diseases, family members of subjects with known or suspected autoinflammatory diseases, and healthy controls. Persons interested in participation may be given a screening questionnaire to determine eligibility. Questions in the screening questionnaire are important to help us determine if subjects have known autoinflammatory diseases, or if there is a high clinical suspicion of autoinflammatory disease.\n\nIn order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n2. Regardless of gender, at least one month of age;\n3. A medical history that, in the expert opinion of the study team, is consistent with the possibility of autoinflammatory disease; and\n4. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n2. Regardless of gender, at least one month of age;\n3. Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;\n4. Likelihood, in the expert opinion of the study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and\n5. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures for healthy volunteers;\n2. Regardless of gender, at least one year old, and not pregnant (by history of a missed menstrual period);\n3. Likelihood, in the expert opinion of the study team, that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and\n4. Ability of the subject or parents (in the case of children) to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\nFor any of the three categories of subjects, an individual will be excluded from participation in this study if he or she has a medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.",true,"2 Months","115 Years",{"count":112,"type":22},5000,"This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.\n\nThe following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 7 years of age or older.\n\nPatients will undergo a medical and family history, physical examination, blood and urine tests. Additional tests and procedures may include the following:\n\n1. X-rays\n2. Consultations with specialists\n3. DNA sample collection (blood or saliva sample) for genetic studies. These might include studies of specific genes, or more complete sequencing of the genome.\n4. Additional blood samples a maximum of 1 pint (450 ml) during a 6-week period for studies of white cell adhesion (stickiness)\n5. Leukapheresis for collecting larger amounts of white cells for study. For this procedure, whole blood is collected through a needle in an arm vein. The blood flows through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm.\n\nPatients may be followed approximately every 6 months to monitor symptoms, adjust medicine dosages, and undergo routine blood and urine tests. They will receive genetic counseling by the study team on the risk of having affected children and be advised of treatment options.\n\nParticipating relatives will undergo a medical and family history, possibly with a review of medical records, physical examination, blood and urine tests. Additional procedures may include a 24-hour urine collection, X-rays, and consultations with medical specialists. A DNA sample (blood or saliva) will also be collected for genetic studies. Additional blood samples of no more than 550 mL during an 8-week period may be requested for studies of white cell adhesion (stickiness).\n\nRelatives who have familial Mediterranean fever, TRAPS, or hyper-IgD syndrome will receive the same follow-up and counseling as described for patients above.\n\nNormal volunteers and patients with gout will have a brief health interview and check of vital signs (blood pressure and pulse) and will provide a blood sample (up to 90 ml, or 6 tablespoons). Additional blood samples of no more than 1 pint over a 6-week period may be requested in the future....",[115,116,117,118,35,119,120],"Familial Mediterranean Fever (FMF)","Autoinflammation","Periodic Fever","Fever","ROSAH","ALPK1",[122,123,117,124,125,86,126,116,127,128],"Splenomegaly","Retinal Dystrophy","Optic Nerve Edema","HEADACHE","Familial Mediterranean","Anhidrosis","Alpha-Kinase 1","2026-06-27",{"date":90,"type":61},{"date":132,"type":61},"1994-03-10",{"name":134,"class":135},"National Human Genome Research Institute (NHGRI)","NIH",5,{"id":138,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":139,"targetDuration":4,"studyType":23,"phases":140,"briefSummary":26,"conditions":141,"keywords":142,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":143,"lastUpdatePostDateStruct":144,"startDateStruct":146,"completionDateStruct":147,"leadSponsor":148,"locationsCount":4},"100638788",{"count":21,"type":22},[25],[28,29,30,31,32,33,34,35,36,37,38,39,40,41],[43,44,45,46,47,48,49,50,15,51,52,53,54,55,56,41],"2026-05-08",{"date":145,"type":61},"2026-05-14",{"date":63,"type":22},{"date":65,"type":22},{"name":67,"class":68},{"id":150,"slug":151,"hasResults":11,"nctId":152,"briefTitle":153,"officialTitle":154,"acronym":4,"eligibilityCriteria":155,"healthyVolunteers":11,"sex":76,"minAge":156,"maxAge":4,"enrollmentInfo":157,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":159,"conditions":160,"keywords":164,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":170,"lastUpdatePostDateStruct":171,"startDateStruct":173,"completionDateStruct":175,"leadSponsor":177,"locationsCount":4},"100630367","bag3-dcm-natural-history-study-100630367","NCT07486752","BAG3-DCM Natural History Study","An Observational Study of Patients With Dilated Cardiomyopathy (DCM) Associated With Pathogenic BAG3 Variants","Key Inclusion Criteria:\n\nSubjects are eligible for inclusion into the study only if all the following criteria apply:\n\nGeneral:\n\n1. Adult patients 18 years or older at the time of providing informed consent (i.e., signing the ICF).\n2. Capable and willing to provide signed informed consent, which includes compliance with the requirements and restrictions listed in the ICF and protocol.\n3. Diagnosis of DCM as defined by mild to moderate systolic dysfunction performed within 12 months of enrollment and confirmed by the principal investigator that the DCM is predominantly non-ischemic.\n4. Documentation of a pathogenic or likely pathogenic variant in BAG3 by a CLIA-certified or equivalent genetic testing laboratory.\n5. NYHA class I-III\n\nKey Exclusion Criteria:\n\nAll Cohorts:\n\n1\\. Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study results 2. Previous treatment with gene therapy 2. Gene testing indicates that the patient's arrhythmia or cardiomyopathy may be related to a genetic etiology other than BAG3 variant.\n\n4\\. NYHA class IV HF. 5. Presence or requirement for MCS or predicted need for MCS or heart transplantation within 6 months prior to enrollment.\n\n6\\. Prior heart transplantation. 7. Known infection with human immunodeficiency virus (HIV). 8. Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.","18 Years",{"count":158,"type":22},30,"The goal of this international observational study is to learn about the natural history of Dilated Cardiomyopathy (DCM) arising from pathogenic BAG3 variants in adult patients ≥18 years of age.",[161,162,163,35],"Dilated Cardiomyopathy (DCM)","Cardiovascular Diseases","Heart Diseases",[165,166,167,168,169],"BAG3","Dilated Cardiomyopathy","BAG3-DCM","Cardiomyopathy","BCL2-associated Athanogene 3","2026-03-17",{"date":172,"type":61},"2026-03-20",{"date":174,"type":22},"2026-05",{"date":176,"type":22},"2033-03",{"name":178,"class":68},"Rocket Pharmaceuticals Inc.",{"id":180,"slug":181,"hasResults":11,"nctId":182,"briefTitle":183,"officialTitle":184,"acronym":4,"eligibilityCriteria":185,"healthyVolunteers":11,"sex":76,"minAge":186,"maxAge":4,"enrollmentInfo":187,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":189,"conditions":190,"keywords":192,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":197,"lastUpdatePostDateStruct":198,"startDateStruct":200,"completionDateStruct":202,"leadSponsor":204,"locationsCount":205},"100565635","pkp2-acm-natural-history-study-100565635","NCT06644742","PKP2-ACM Natural History Study","The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study","Inclusion Criteria\n\nPatients must meet all the following criteria (and none of the exclusion criteria) to be eligible for study participation:\n\n1. Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision).\n2. Capable and willing to provide signed informed consent and\u002For assent, which includes compliance with the requirements and restrictions listed in the ICF and protocol.\n3. Clinical diagnosis of arrhythmogenic cardio myopathy (ACM)\n4. Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory\n5. History of ICD implantation ≥6 months prior to ICF provision\n6. Left ventricular ejection fraction by echocardiogram or cardiac magnetic resonance (CMR) ≥50% at ≤12 months prior to ICF provision\n\nExclusion Criteria\n\nPatients meeting any of the following criteria are excluded from study participation:\n\n1. Gene testing indicates that the subject's arrhythmia or cardiomyopathy may be related to a genetic etiology other than PKP2 truncating variant.\n2. Concurrent participation in any other clinical investigation involving use of an investigational agent that could confound results of this study.\n3. Previous participation in a study of gene transfer or gene editing.\n4. NYHA Class IV heart failure.\n5. Presence or requirement for mechanical circulatory support (MCS) or predicted need for MCS or heart transplantation within 6 months of enrollment.\n6. Prior cardiac or other organ (lung, liver, other) transplantation.\n7. Pacemaker dependent rhythm documented, as assessed by the principal investigator ≤12 months prior to enrollment.\n8. Positive human immunodeficiency virus (HIV) antibody test.\n9. Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.","12 Years",{"count":188,"type":22},36,"The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.",[191,163,162,35],"Cardiomyopathies",[193,194,195,196],"Arrhythmogenic Cardiomyopathy","Plakophilin-2","Arrhythmogenic Cardiomyopathy (AC, ARVD\u002FC)","PKP2","2026-02-24",{"date":199,"type":61},"2026-02-27",{"date":201,"type":22},"2026-03",{"date":203,"type":22},"2031-04",{"name":178,"class":68},3,{"id":207,"slug":208,"hasResults":11,"nctId":209,"briefTitle":210,"officialTitle":210,"acronym":211,"eligibilityCriteria":212,"healthyVolunteers":11,"sex":76,"minAge":4,"maxAge":4,"enrollmentInfo":213,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":215,"conditions":216,"keywords":4,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":220,"lastUpdatePostDateStruct":221,"startDateStruct":223,"completionDateStruct":225,"leadSponsor":227,"locationsCount":100},"100534188","genotype-phenotype-characterization-study-on-genetic-diseases-with-immune-and-neurological-dysfunctions-100534188","NCT06235580","Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions","IFN","Inclusion criteria\n\n* Patients :\n\n  * Have \u002F present a family history of genetic disease with immune and neurological dysfunction.\n  * Have signed an informed consent form.\n* Unaffected related subjects :\n\n  * Be related to a patient included in this research.\n  * Have signed an informed consent form.\n* Control patients\n\n  * Be free of any genetic disease with immune and neurological dysfunction.\n  * Have undergone surgery as part of their management\n  * Have signed an informed consent form.\n\nNon-inclusion criteria\n\n✓ Be deprived of liberty",{"count":214,"type":22},1000,"Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. The pathologies studied have a particularly severe impact on patients' quality of life, with a high mortality rate and a significant risk of occurrence in affected families. These pathologies are rare, and very often under-diagnosed. To date, there is virtually no effective curative treatment.\n\nProf. Crow's team operates at the frontier between clinical and research work, and from experience, the team knows that patients and families affected by these serious pathologies are often highly motivated to help research into the pathology that affects them.\n\nInitially, Prof. Crow's research focused primarily on the study of the genetic disease Aicardi-Goutières Syndrome (AGS). However, there is an undeniable clinical and pathological overlap between AGS and other forms of disease such as autoimmune systemic lupus erythematosus and many other genetic pathologies - e.g. familial lupus engelure, spondyloenchondromatosis and COPA syndrome. This is why research is being extended to all genetic diseases with immune and neurological dysfunctions.",[35,217,218,219],"Immune Dysfunction","Neurological Disease","Autoimmune Diseases","2025-12-12",{"date":222,"type":61},"2025-12-19",{"date":224,"type":61},"2015-12-28",{"date":226,"type":22},"2035-12-27",{"name":228,"class":99},"Imagine Institute",{"id":230,"slug":231,"hasResults":11,"nctId":232,"briefTitle":233,"officialTitle":233,"acronym":234,"eligibilityCriteria":235,"healthyVolunteers":108,"sex":76,"minAge":156,"maxAge":4,"enrollmentInfo":236,"targetDuration":238,"studyType":80,"phases":4,"briefSummary":239,"conditions":240,"keywords":244,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":250,"lastUpdatePostDateStruct":251,"startDateStruct":253,"completionDateStruct":255,"leadSponsor":257,"locationsCount":5},"100574647","impaired-type-i-ifn-immunity-due-to-autoantibodies-or-a-genetic-defect-a-prospective-national-cohort-100574647","NCT06762002","Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National Cohort","COVIFERON","Inclusion Criteria:\n\n* Age \\>18 years\n* History of carrying 1) auto-Abs against type I IFNs or 2) IEI impairing the response to, or the production of, type I IFNs (IFN-I-IEI)\n* Affiliated to social security\n* Written informed consent\n\nExclusion Criteria:\n\n* Participation to an interventional clinical trial on a pharmacological treatment\n* Clinical condition leading to life expectancy less than 1 year\n* Subject to a legal protection measure (safeguard of justice, curatorship, tutorship)\n* Individuals deprived of freedom",{"count":237,"type":22},500,"3 Years","The major role of human genetic factors in the immune response to infections is now well established, particularly for viral infections. In the context of the COVID-19 pandemic, the following results have identified 1) several inborn errors of immunity (IEI) affecting the response or production of type I interferons (type I IFNs) in around 4% of adult patients with severe clinical disease, and 2) the presence of type I IFN-neutralizing autoantibodies (auto-Abs) in around 15% of severe cases, and 20% of deaths. The investigators would like to carry out a longitudinal immunological and clinical follow-up study on a prospective cohort of patients with either a genetic defect affecting the type I IFN-dependent immune response, or anti-IFN-I auto-Abs, to monitor the incidence of infectious and\u002For autoimmune events in these individuals, the evolution of neutralizing power, and the kinetics of auto-Abs. This should lead to a better understanding of the prevention and management of these patients.\n\nThe research design is a national multicenter prospective cohort of adults with 1) anti-IFN-I auto-Abs or 2) IEI- IFN-I, with follow-up from 1 to 4 years. These individuals may be: 1) patients who have or have had clinical disease (related to COVID-19, other viral infections, autoimmune disorders); or 2) \"healthy\" participants (e.g. blood donors, relatives of an IEI patient).\n\nFollow-up will include:\n\n* yearly visits to the Clinical Investigation Center (CIC) or a clinical department with blood sampling;\n* specific visit in case of hospitalization for infectious events or adverse effects of vaccination, exacerbation or new diagnosis of auto-immune disease, new diagnosis of cancer, or SARS-CoV-2 infection whether or not patients are admitted to hospital, with blood sampling.\n\nIn addition, a retrospective \"passive\" follow-up will be implemented through matching with the data from the SNDS (National Health Data System), in order to collect clinical events of and healthcare resource consumption. Moreover, matching with controls adults from the national CONSTANCES cohort, not carrying auto-Abs against type I IFNs nor IEI-IFN-I, will be performed. (ratio 3:1; matching on age (+\u002F- 5 years), gender and geographic region of recruitment). Individuals under long-lasting immunosuppressive or immunomodulatory drugs will not be eligible. Follow-up of controls, which will be carried out as part of the CONSTANCES cohort, will include web-based questionnaires, every 12 months, in addition to linking with SNDS data as already done in this cohort.\n\nInclusion visit:\n\nAfter signing the consent form, the following tests will be performed:\n\n* Demographic characteristics (sex, age, country of birth)\n* Medical history from participant and family member(s) including infectious and auto-immune diseases, cancers and vaccination status and side effects\n* Blood samples for:\n\n  * full blood cell count;\n  * classical autoimmune investigations (anti-nuclear, anti-ENA, native anti-DNA, anti- thyroid antibodies, rheumatoid factor);\n  * immunophenotyping\\*;\n  * auto-Abs against type I IFNs, other cytokines\\*, or other target proteins\\* (dosage and neutralization activity);\n  * Genetic explorations by whole-exome or whole-genome sequencing\\*;\n  * Biobanking (DNA, plasma\u002Fsera; cryopreserved peripheral blood mononuclear cells (PBMCs).\n\n    * these biological analyses will be carried out as part of dedicated COVIFERON RHU5 workpackages.\n\nIn addition, vaccination against SARS-CoV-2 and influenza will be offered to these subjects as a priority, as part of their usual care.\n\nFollow-up visits :\n\nAnnual visits to the CIC :\n\n* Medical history since last visit, including infectious, auto-immune and oncologic events, vaccination status and side effects\n* Blood samples for:\n\n  * full blood cell count;\n  * classical autoimmune investigation (anti-nuclear, anti-ENA, native anti- DNA, anti-thyroid antibodies, rheumatoid factor);\n  * immunophenotyping;\n  * Auto-Abs against type I IFNs, other cytokines, or other target proteins (dosage and neutralization)\n  * Biobanking (DNA, plasma, cryopreserved peripheral blood mononuclear cells (PBMCs))\n\nAdditional specific visit in the event of a clinical event of interest, at any time during follow-up:\n\n* In case of SARS-CoV-2 infection, whatever the severity of the disease: blood sampling for determination and neutralization of type I anti-IFN autoAbs, CBC, and biobanking (plasma and PBMC) and teleconsultation with the CIC in charge of patients, as soon as possible.\n* In the event of hospitalization for infectious events or exacerbation or new diagnosis of an auto-immune disease: blood sampling for determination and neutralization of anti-IFN-I autoAbs, CBC, and biobanking (plasma and PBMCs) and collection of the hospitalization report in the case report form on a dedicated page.",[241,242,35,243],"Immunology","Allergy","Infectious Diseases",[245,246,247,248,249],"covid-19","auto-immunity","Type I interferon","kinetics","infectious diseases","2025-09-02",{"date":252,"type":61},"2025-09-08",{"date":254,"type":61},"2025-04-09",{"date":256,"type":22},"2029-01",{"name":258,"class":259},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",{"id":261,"slug":262,"hasResults":11,"nctId":263,"briefTitle":264,"officialTitle":265,"acronym":4,"eligibilityCriteria":266,"healthyVolunteers":108,"sex":76,"minAge":4,"maxAge":4,"enrollmentInfo":267,"targetDuration":4,"studyType":23,"phases":269,"briefSummary":271,"conditions":272,"keywords":273,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":279,"lastUpdatePostDateStruct":280,"startDateStruct":282,"completionDateStruct":284,"leadSponsor":286,"locationsCount":100},"100279444","rady-childrens-institute-genomic-biorepository-100279444","NCT02917460","Rady Children's Institute Genomic Biorepository","Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data","Inclusion Criteria:\n\n* All ages, races, genders, ethnicities, and health status will be eligible for participation. Enrollment will include that following vulnerable populations: pregnant women, neonates, fetuses, those with cognitive disabilities, pediatric patients, minorities, and employees.\n\nExclusion Criteria:\n\n* None",{"count":268,"type":22},102000,[270],"NA","Rady Children's Institute for Genomic Medicine (RCI) will collect biological samples (such as blood), derived genomic sequences (from DNA and RNA), and clinical features in a Biorepository as a standardized resource for future research studies. The purpose of the Genomic Institute Biorepository is to provide consented samples and data for basic and clinical research related to the genomic cause and treatment of childhood disease, and, in the future, as reference (Quality Control) data to improve the ability to make clinical diagnoses or clinical decisions.\n\nIn addition, the Biorepository will provide a mechanism for making a diagnosis of a genetic disease. That is, once genomic sequences have been derived from biological samples, they will be immediately analyzed. If a genetic disease is identified that appears to explain an affected child's clinical features, then those results will be confirmed by the medically accepted standard, and placed in the electronic health record.",[35],[274,275,276,277,278],"Rady","Pediatric","Genomic","Precision medicine","Biorepository","2022-12-08",{"date":281,"type":61},"2022-12-12",{"date":283,"type":61},"2016-07",{"date":285,"type":22},"2050-12",{"name":287,"class":99},"Rady Pediatric Genomics & Systems Medicine Institute"]