[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Imagine Institute\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":380},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,15,0,[8,47,72,95,123,147,171,191,225,247,268,290,315,339,358],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":27,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100596078","natural-history-of-type-1-interferonopathies-insights-from-a-european-cohort-100596078",false,"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.","ALL",{"count":18,"type":19},500,"ESTIMATED","OBSERVATIONAL","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.",[23,24,25,26],"Genetic Disease","Immune Dysfunction","Neurological Diseases or Conditions","Autoimmune Diseases",[28,29,30,31,32,33],"Immune dysfuntion","Neurological disease","Autoimmune diseases","Genetics diseases","Interferon","Aicardi-Goutieres Syndrom","RECRUITING","2026-05-12",{"date":37,"type":38},"2026-05-13","ACTUAL",{"date":40,"type":38},"2025-10-01",{"date":42,"type":19},"2045-10",{"name":44,"class":45},"Imagine Institute","OTHER",32,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":54,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":56,"conditions":57,"keywords":59,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":63,"lastUpdatePostDateStruct":64,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":71},"100530444","epidemiological-data-on-mast-cell-pathologies-in-france-100530444","NCT06186856","Epidemiological Data on Mast Cell Pathologies in France","DATAMAST","Inclusion Criteria:\n\n1. Children from birth and adults of any age\n2. With one of the following mast cell diseases:\n\n   * Mastocytoses (cutaneous, systemic and sarcomas) Defined according to the WHO 2016 classification\n   * Mast cell activation syndromes (idiopathic, secondary and clonal)\n   * Other mast cell activation disorders (MCAD-NOS), Defined according to the Vienna classification\n   * Pre-mastocytosis or MMC (1 to 2 criteria according to WHO 2016 classification).\n3. Managed in France in a rare disease reference, constitutive or competence center (CEREMAST) with DGOS labelization.\n\nExclusion Criteria:\n\n1\\. Opposition of the patient or his\u002Fher parents to participation in the study.",{"count":55,"type":19},13000,"Mast cell disorders constitute a heterogeneous group of diseases, including :\n\n* mastocytosis, i.e. cutaneous, indolent and severe forms of the disease, such as aggressive mastocytosis and mast cell leukemia) ;\n* mast cell-associated diseases such as mast cell activation syndrome (idiopathic, secondary or clonal), affecting both children and adults.\n\nNo epidemiological data are currently available in France.\n\nIn France, medical care of mast cell disorders is mainly provided by a rare disease network (CEREMAST), whose CRMR is located at the Necker Enfants Malades hospital in Paris. A total of 20 centers are located throughout France.\n\nOur aim is to use this network to study patients suffering from these diseases. The overall aim of the study is to improve the understanding, diagnosis, prognosis, recognition and management of patients with mastocytosis.",[58],"Mast Cell Disorder",[60,61,62],"Mast Cell Disease","Mastocytosis","mast cell-associated diseases","2026-04-21",{"date":65,"type":38},"2026-04-22",{"date":67,"type":38},"2024-11-01",{"date":69,"type":19},"2038-12-31",{"name":44,"class":45},21,{"id":73,"slug":74,"hasResults":11,"nctId":75,"briefTitle":76,"officialTitle":76,"acronym":77,"eligibilityCriteria":78,"healthyVolunteers":11,"sex":16,"minAge":79,"maxAge":80,"enrollmentInfo":81,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":83,"conditions":84,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":86,"lastUpdatePostDateStruct":87,"startDateStruct":89,"completionDateStruct":91,"leadSponsor":93,"locationsCount":94},"100633510","evaluation-of-socio-professional-inclusion-for-young-adults-aged-15-25-living-with-a-rare-genetic-disability-100633510","NCT07527624","Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability","ImagineLaSuite","Inclusion Criteria:\n\n* Current age 15-25 years born between 1997 and 2007\n* Rare genetic disease confirmed by a genetic test, originating in childhood and followed at Necker in the networks of the following disease reference centers:\n\n  * epilepsy without deficiency ;\n  * genodermatosis ;\n  * constitutional bone diseases ;\n  * craniofacial malformations;\n  * deafness;\n\nExclusion Criteria:\n\n* Patient or parent's opposition to study participation\n* Patient with intellectual disability (IQ \\\u003C 70)\n* Patients with pathologies involving intellectual disability and patients with a clinical sign of intellectual disability.","15 Years","25 Years",{"count":82,"type":19},300,"Rare diseases are often synonymous with difficulties for sufferers, whether physical, mental or social. Patients suffering from rare diseases face specific problems, such as the long wait for a diagnosis, the geographical distance between the rare disease reference center and home, and the isolation created by this very disabling disease... Children suffering from rare genetic diseases have difficulty accessing higher education, but above all in finding an internship or work-study placement, due to the rarity of their disability.\n\nThe aim of this study, entitled \"Imagine La Suite\", is to assess the difficulties encountered by young people with rare genetic diseases and disabilities in their search for vocational and university training or employment.",[85],"Rare Diseases","2026-04-07",{"date":88,"type":38},"2026-04-14",{"date":90,"type":38},"2024-01-08",{"date":92,"type":19},"2026-08-08",{"name":44,"class":45},1,{"id":96,"slug":97,"hasResults":11,"nctId":98,"briefTitle":99,"officialTitle":100,"acronym":101,"eligibilityCriteria":102,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":103,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":105,"conditions":106,"keywords":108,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":115,"lastUpdatePostDateStruct":116,"startDateStruct":118,"completionDateStruct":120,"leadSponsor":122,"locationsCount":94},"100625424","faces-4-kids--a-deep-phenotyping-database-of-craniofacial-anomalies-during-development-with-4-pilot-projects-100625424","NCT07422454","FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects","FACE.S-4-KIDS : FACE and SKULL for Key Innovative Data Science. Une Base de données de phénotypage Profond Des Anomalies Craniofaciales au Cours du développement","FACES-4-KIDS","Inclusion Criteria for patients:\n\n1. Patients suffering from one of the following pathologies:\n\n   craniostenosis linked to FGFR signaling, achondroplasia \u002F hypochondroplasia, osteogenesis imperfecta, Pierre Robin sequence (with or without anatomical markers).\n2. Patients who may or may not have benefited from genome sequencing as part of their care and who (or holders of parental authority where applicable) have consented to the conservation of the remains of their biological samples in one of these collections:\n\n   * Chondroplasia and craniostenosis,\n   * Constitutional Bone Diseases,\n   * Developmental anomalies.\n3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.\n\nInclusion Criteria for controls:\n\n1. Patients who have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, with none of these pathologies:\n\n   FGFR-related craniosynostoses Chondroplasia \u002F hypochondroplasia Osteogenesis imperfecta Pierre Robin sequence (with or without anatomical marker)\n2. Patients who have benefited from genome sequencing as part of their care and who have (or holders of parental authority where applicable) consented to the conservation of the remains of their biological samples in the \"Infectious Diseases\" collection .\n3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their treatment.\n\nNon-inclusion Criteria:\n\nOpposition of the patient or his parents to the reuse of their data from care in this study",{"count":104,"type":19},3100,"FACE.S-4-KIDS is an ambitious database project addressing the scientific question of the variable expression of craniofacial disorders in humans, to reach a sound clinical management (diagnosis, prognosis), and the establishment of personalised treatment plans.",[107],"Craniofacial Abnormalities",[109,110,111,112,113,114],"Genetics","Rare disease","Craniofacial development","Dysmorphic syndromes","Deep phenotyping","Face and skull imaging","2026-02-12",{"date":117,"type":38},"2026-02-20",{"date":119,"type":38},"2025-10-16",{"date":121,"type":19},"2033-10-31",{"name":44,"class":45},{"id":124,"slug":125,"hasResults":11,"nctId":126,"briefTitle":127,"officialTitle":127,"acronym":128,"eligibilityCriteria":129,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":130,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":132,"conditions":133,"keywords":137,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":139,"lastUpdatePostDateStruct":140,"startDateStruct":142,"completionDateStruct":144,"leadSponsor":146,"locationsCount":94},"100532946","automatic-phenotyping-of-patients-on-2d-photography-100532946","NCT06219421","Automatic Phenotyping of Patients on 2D Photography","AIDY2","The patient inclusion criteria are:\n\n* Patients followed in medical genetics,\n* Patients undergoing maxillofacial surgery, or craniofacial surgery as part of the management of a pathology, of genetic origin or not, associated with dysmorphism of the head and neck,\n* Patients for whom frontal and profile facial photographs are taken as part of their treatment.\n\nThe inclusion criteria for control subjects are:\n\n* Patients followed in maxillofacial surgery, for a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).\n* Patients for whom frontal and profile facial photographs are taken as part of their treatment.\n\nThe criteria for non-inclusion of patients are:\n\n* Patients who have undergone facial or skull surgery before the first photo was taken.\n* Person subject to a judicial safeguard measure.\n* People objecting to the reuse of their health data.\n\nThe criteria for non-inclusion of control subjects are:\n\n* Pathologies affecting facial symmetry (dental cellulitis, displaced fractures).\n* Patient followed for dysmorphic syndrome or in whom dysmorphic syndrome has been suspected.\n* Person subject to a judicial safeguard measure.\n* People objecting to the reuse of their health data.",{"count":131,"type":19},22000,"The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.\n\nIt is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays",[134,135,136],"Dysmorphia","Orphan Diseases","Dysmorphies Craniofaciales",[138],"artificial intelligence","2026-01-08",{"date":141,"type":38},"2026-01-12",{"date":143,"type":38},"2025-01-01",{"date":145,"type":19},"2028-03-01",{"name":44,"class":45},{"id":148,"slug":149,"hasResults":11,"nctId":150,"briefTitle":151,"officialTitle":151,"acronym":152,"eligibilityCriteria":153,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":154,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":156,"conditions":157,"keywords":160,"overallStatus":162,"whyStopped":4,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":166,"completionDateStruct":168,"leadSponsor":170,"locationsCount":94},"100617013","longitudinal-assessment-of-protein-markers-in-the-cerebrospinal-fluid-of-patients-with-central-nervous-system-involvement-100617013","NCT07313098","Longitudinal Assessment of Protein Markers in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement","HJ-COLOCS","Inclusion Criteria:\n\n1. Patients with a neurological condition diagnosed by a physician requiring cerebrospinal fluid (CSF) collection, through:\n\n   * Neurosurgical procedure (EVD, VP shunt, VSG shunt, tumor surgery, spinal surgery with dural opening, ELD);\n   * Lumbar puncture (LP).\n2. Patients who have (or whose legal guardians, where applicable, have) consented to the storage and reuse of residual biological samples collected during the course of care within the biological collection.\n\nExclusion Criteria:\n\n1\\. Objection by the patient and\u002For the legal guardian, if the patient is a minor, to participation in the study.",{"count":155,"type":19},1000,"In the context of adult pathology, research into biomarkers in cerebrospinal fluid (CSF) has already identified proteins that are commonly used for the early diagnosis of certain neurodegenerative diseases. However, the lack of data available in the literature on pediatric diseases has limited the use of biomarkers in routine practice in children. Importantly, our group has pioneered the establishment of CSF biomarkers in children (e.g., measurement of interferon alpha in CSF by ultra-sensitive digital ELISA), which will undoubtedly be used in routine clinical practice in the future. In light of these arguments, the establishment of a CSF biobank will have major clinical implications, given the rarity of the diseases treated and the number of patients followed.",[158,159],"Neurologic Disorder","Central Nervous System Diseases",[161,159,158],"Cerebrospinal Fluid","NOT_YET_RECRUITING","2025-12-22",{"date":165,"type":38},"2025-12-31",{"date":167,"type":19},"2026-03-01",{"date":169,"type":19},"2036-01-01",{"name":44,"class":45},{"id":172,"slug":173,"hasResults":11,"nctId":174,"briefTitle":175,"officialTitle":175,"acronym":176,"eligibilityCriteria":177,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":178,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":179,"conditions":180,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":183,"lastUpdatePostDateStruct":184,"startDateStruct":186,"completionDateStruct":188,"leadSponsor":190,"locationsCount":94},"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":155,"type":19},"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.",[181,24,182,26],"Genetic Diseases","Neurological Disease","2025-12-12",{"date":185,"type":38},"2025-12-19",{"date":187,"type":38},"2015-12-28",{"date":189,"type":19},"2035-12-27",{"name":44,"class":45},{"id":192,"slug":193,"hasResults":11,"nctId":194,"briefTitle":195,"officialTitle":196,"acronym":197,"eligibilityCriteria":198,"healthyVolunteers":199,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":200,"targetDuration":4,"studyType":202,"phases":203,"briefSummary":205,"conditions":206,"keywords":213,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":217,"lastUpdatePostDateStruct":218,"startDateStruct":220,"completionDateStruct":222,"leadSponsor":224,"locationsCount":94},"100565889","research-of-therapeutic-targets-in-the-frame-of-nephronophthisis-and-renal-associated-ciliopathies-100565889","NCT06648044","Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies","Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies - NPH_1","NPH1","Inclusion Criteria:\n\n* In order to be included in the protocol, subjects will have to respect the following criteria:\n\nAffected patients:\n\nSuffering from nephronophthisis or renal associated ciliopathies with known genetic diagnosis or not, Having obtained the signature of the informed consent form of patient, parent(s) or legal representative No age limit is requested for these patients, who can be recruited from birth.\n\nHealthy relatives:\n\nBeing the healthy relative (father \u002F mother \u002F brother \u002F sister) of an included patient Having signed the informed consent form (patient or parent in case of minor subject) No age limit is requested for these subjects, who can be recruited from birth.\n\n'Negative' control patients: Being unscathed of any chronic renal disease, with or without ciliopathies Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.\n\n'Positive' control patients Suffering from Chronic Kidney Disease unrelated to ciliary dysfunction (such as glomerulopathy, tubulopathy…) Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.\n\nExclusion Criteria:\n\nIn order to be included in the protocol, subjects will have to fulfill none of the following criteria:\n\nAffected patients:\n\nPatients with a functioning kidney transplant (only for patient for who urine sample is performed. This criteria is not applicable when only blood is sampling) Patients included in a therapeutic protocol since fewer 30 days.\n\nHealthy relatives:\n\nNo no-inclusion criteria\n\n'Negative' control subjects: No no-inclusion criteria\n\n'Positive' control subjects: Patients with a functioning kidney transplant",true,{"count":201,"type":19},310,"INTERVENTIONAL",[204],"NA","Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).\n\nThese genetic defects are associated with reduced urine concentration, chronic tubulointerstitial nephritis, etc., and progress to end-stage renal failure before the age of 20.\n\nNephronophthisis may occur as an isolated pathology, but is also often associated with various extrarenal symptoms.\n\nNPHP genes account for around 50% of the genes responsible for NPH. No effective treatment is available to date.\n\nStudying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA, and could be applicable to a broad set of NPHP mutations. To this end, Dr. Saunier's laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations.",[207,197,208,209,210,211,212],"Nephronophthisis","Autosomal","Recessive","Genetically","Heterogenic","Disorder",[214,215,216],"mutations","20","genes","2025-08-29",{"date":219,"type":38},"2025-09-05",{"date":221,"type":38},"2016-02-01",{"date":223,"type":19},"2028-02-01",{"name":44,"class":45},{"id":226,"slug":227,"hasResults":11,"nctId":228,"briefTitle":229,"officialTitle":230,"acronym":231,"eligibilityCriteria":232,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":233,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":235,"conditions":236,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":238,"lastUpdatePostDateStruct":239,"startDateStruct":241,"completionDateStruct":243,"leadSponsor":245,"locationsCount":246},"100545306","developmental-and-epileptic-encephalopathy-of-genetic-etiology-natural-history-through-reuse-of-clinical-data-100545306","NCT06380192","Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data","Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data \u002F DEE-RETRO","DEE-RETRO","Inclusion Criteria:\n\n* Diagnosis of Developmental and Epileptic Encephalopathy\n* Registered with or benefiting from a social security scheme.\n\nExclusion Criteria:\n\n* Opposition of the patient or his\u002Fher parents to the re-use of data in the context of this study\n* Person subject to a safeguard of justice measure",{"count":234,"type":19},400,"Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity.\n\nThe creation of a database with retrospective follow-up of a large number of patients on a national scale will enable better knowledge of specific biomarkers, and thus a better classification and understanding of the natural evolution of DEE according to their etiology. This will enable better, more personalized therapeutic management of patients, depending on etiology and the presence or absence of these biomarkers. The investigators will also be able to draw up management recommendations, which are currently non-existent.",[237],"Developmental and Epileptic Encephalopathy","2025-06-25",{"date":240,"type":38},"2025-06-29",{"date":242,"type":38},"2024-10-31",{"date":244,"type":19},"2026-12-31",{"name":44,"class":45},23,{"id":248,"slug":249,"hasResults":11,"nctId":250,"briefTitle":251,"officialTitle":251,"acronym":252,"eligibilityCriteria":253,"healthyVolunteers":199,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":254,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":256,"conditions":257,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":259,"lastUpdatePostDateStruct":260,"startDateStruct":262,"completionDateStruct":264,"leadSponsor":266,"locationsCount":267},"100327317","pathophysiological-explorations-of-red-blood-cells-100327317","NCT03541525","Pathophysiological Explorations of Red Blood Cells","GR-Ex","Inclusion Criteria:\n\n* To be affected or have a family history of disease bound to the red blood cell,\n* For adult subjects, have signed an informed consent form,\n* For minor or major under legal safeguard subjects, the form must be signed by both parents (for minors) or by the legal representative,\n* Be affiliated to health insurance.\n\nExclusion Criteria:\n\n* Being deprived of freedom",{"count":255,"type":19},3750,"GR-Ex is a program labelled by Labex (Laboratory of Excellence) by the French Ministry of Higher Education and Research. This program aims to develop the means to improve knowledge in the physiology and pathologies of erythropoiesis, red blood cells and iron metabolism, and to develop new therapeutic protocols capable of providing added value in terms of innovation.",[258],"Red Blood Cell Disorder","2025-04-29",{"date":261,"type":38},"2025-04-30",{"date":263,"type":38},"2017-10-16",{"date":265,"type":19},"2037-10-15",{"name":44,"class":45},25,{"id":269,"slug":270,"hasResults":11,"nctId":271,"briefTitle":272,"officialTitle":273,"acronym":274,"eligibilityCriteria":275,"healthyVolunteers":199,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":276,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":278,"conditions":279,"keywords":281,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":259,"lastUpdatePostDateStruct":283,"startDateStruct":284,"completionDateStruct":286,"leadSponsor":288,"locationsCount":289},"100256265","characterization-of-phenotype-and-genotype-of-early-onset-enteropathies-100256265","NCT02614911","Characterization of Phenotype and Genotype of Early Onset Enteropathies","Host-Microbiota Interactions Across the Gut Immune System: Characterization of Phenotype and Genotype of Early Onset Enteropathies","IMMUNOBIOTA","Main Inclusion Criteria:\n\n* Severe chronic enteropathy\n* Patients developing their first symptoms within the first 6 years of life and, in priority within the first two years of life, or patients with a disease of later onset, in case of a familial history suggestive of inherited mutations notably in families comprising several affected members\n* OR : Be a patient's relative, even if presenting with enteropathy of later onset.\n\nMain Exclusion Criteria:\n\n* Subject having participated to any therapeutical clinical study in the 30 days preceding the inclusion in this study,",{"count":277,"type":19},1445,"This study has been set up in order to characterize phenotypes and genotypes of patients with early onset enteropathies.\n\nIn that goal, Investigators will collect biological samples (mainly blood) of patients suffering from early onset enteropathies and their healthy relatives.",[280],"Inflammatory Bowel Disease",[282],"Early Onset Entheropathy",{"date":261,"type":38},{"date":285,"type":38},"2014-06-16",{"date":287,"type":19},"2054-06-15",{"name":44,"class":45},12,{"id":291,"slug":292,"hasResults":11,"nctId":293,"briefTitle":294,"officialTitle":294,"acronym":295,"eligibilityCriteria":296,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":297,"enrollmentInfo":298,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":300,"conditions":301,"keywords":303,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":307,"lastUpdatePostDateStruct":308,"startDateStruct":310,"completionDateStruct":312,"leadSponsor":314,"locationsCount":94},"100531682","mapping-epileptic-networks-using-multimodal-imaging-100531682","NCT06202976","Mapping Epileptic Networks Using Multimodal Imaging","CREIM","Inclusion Criteria:\n\n* Be under 18 years of age on the day of inclusion.\n* Present with one of the following forms of epilepsy:\n\n  * refractory focal lesional epilepsy\n  * rare non-lesional epilepsy\n* Present abnormalities (spikes) on the intercritical EEG\n* Have been selected by the \"Epilepsy\" multidisciplinary staff.\n* In the case of refractory lesional epilepsy, be required to perform an EEG-video recording using intracranial electrodes (SEEG) as part of the pre-surgical workup.\n* Be affiliated to a health insurance scheme.\n\nExclusion Criteria:\n\n* Requiring general anesthesia for MRI\n* Require sedation specifically for research\n* Have generalized epilepsy\n* Be deprived of liberty or under guardianship.","18 Years",{"count":299,"type":19},75,"Currently, mapping the epileptogenic zone is based on a comprehensive preoperative assessment involving clinical, imaging and electrophysiological examinations.\n\nTo reduce the need for invasive stereoelectroencephalography (SEEG) explorations, electrophysiological and imaging methods have been developed, such as resting-state functional MRI (fMRI) coupled with electroencephalogram and arterial spin-labeling perfusion MRI (ASL-MRI).\n\nIt has been published that these new methods enable precise delineation of the epileptogenic zone and better preparation for surgery.\n\nThe aim is to determine whether, in children with focal lesional epilepsy, the combination of ASL-MRI-EEG and resting-state fMRI-EEG enables precise identification of the epileptogenic zone to be defined by SEEG, the current reference examination.",[302],"Epilepsy in Children",[304,305,306],"Focal Epilepsy","Lesional Epilepsy","Nonlesional Epilepsy","2025-04-14",{"date":309,"type":38},"2025-04-17",{"date":311,"type":38},"2017-09-14",{"date":313,"type":19},"2033-09-13",{"name":44,"class":45},{"id":316,"slug":317,"hasResults":11,"nctId":318,"briefTitle":319,"officialTitle":320,"acronym":321,"eligibilityCriteria":322,"healthyVolunteers":11,"sex":16,"minAge":323,"maxAge":4,"enrollmentInfo":324,"targetDuration":326,"studyType":20,"phases":4,"briefSummary":327,"conditions":328,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":331,"lastUpdatePostDateStruct":332,"startDateStruct":334,"completionDateStruct":336,"leadSponsor":338,"locationsCount":94},"100397789","covid-19-in-pid-survey-100397789","NCT04459689","COVID-19 in PID Survey","Worldwide COVID-19 in Children and Adult Patients With Primary ImmunoDeficiencies (PID) Survey","COPID19","Inclusion Criteria:\n\n* Diagnosed with a Primary Immune Deficiency\n* COVID-19 (proven or probable)\n\nExclusion Criteria:\n\n* Secondary Immune Deficiency\n* Other Coronovirus infection","0 Years",{"count":325,"type":19},200,"1 Year","With the emergence of SARS-CoV-2 and the COVID-19 pandemic, there is an urgent need to understand the impact of infection on immunodeficient individuals. Whilst co-morbidities (such as diabetes, cancer, arterial hypertension, heart disease...) have been documented in people infected with SARS-CoV-2, there is currently no information on the consequences and outcomes for individuals with primary immunodeficiencies (PID).\n\nFollowing the 1st phase of the survey (launched by Isabelle Meyts (ESID), Nizar Mahlaoui (CEREDIH \\& IPOPI) and Kate Sullivan with Stuart Tangye (IUIS), that gave an idea of the number of affected PID patients and the impact of SARS-CoV-2 and directly focusing on obtaining this top level of information), we are launching the 2nd phase: \"COPID19\".\n\nCOPID19 survey is a secured online GDPR compliant platform based in Paris (Imagine Institute). It has been approved by the Paris-Necker-Enfants malades IRB and Ethics Committee. However, this retrospective survey is designed for global distribution. Data can be entered by a health care professional (mostly clinicians) through a personal login and password.\n\nEach documenting person will have access to his\u002Fher own patients' data. COPID19 require a greater level of information than the 1st phase. The eCRF will be open to evolutions depending on progresses in our knowledge of this pandemic.",[329,330],"Primary Immune Deficiency","COVID","2025-03-03",{"date":333,"type":38},"2025-03-05",{"date":335,"type":38},"2020-03-15",{"date":337,"type":19},"2027-02-18",{"name":44,"class":45},{"id":340,"slug":341,"hasResults":11,"nctId":342,"briefTitle":343,"officialTitle":343,"acronym":344,"eligibilityCriteria":345,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":346,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":347,"conditions":348,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":350,"lastUpdatePostDateStruct":351,"startDateStruct":353,"completionDateStruct":355,"leadSponsor":357,"locationsCount":94},"100516131","juvenile-recurrent-respiratory-papillomatosis-establishment-of-a-french-national-cohort-prr--national-cohort--repa--100516131","NCT06000527","Juvenile Recurrent Respiratory Papillomatosis: Establishment of a French National Cohort (PRR : National Cohort \" REPA \")","REPA","Inclusion Criteria:\n\n* Patients with juvenile PRR (disease onset before age 18)\n* Followed in the :\n\n  * The MALO CRMR\n  * One of the MALO network's CCMRs\n  * One of the main correspondent centers\n\nExclusion Criteria:\n\n* Patients objecting to the collection of their personal data\n* Parents of minor patients objecting to the collection of their child's personal data",{"count":325,"type":19},"Recurrent respiratory papillomatosis (RRP) is a rare disease. However, it is the most common benign laryngeal tumor in children. To date, no epidemiological data are available in France. The aim of this study is to establish the epidemiology of juvenile PPR.",[349],"Juvenile Recurrent Respiratory Papillomatosis","2023-08-17",{"date":352,"type":38},"2023-08-21",{"date":354,"type":38},"2022-10-01",{"date":356,"type":19},"2032-09-30",{"name":44,"class":45},{"id":359,"slug":360,"hasResults":11,"nctId":361,"briefTitle":362,"officialTitle":363,"acronym":364,"eligibilityCriteria":365,"healthyVolunteers":199,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":366,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":368,"conditions":369,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":371,"lastUpdatePostDateStruct":372,"startDateStruct":374,"completionDateStruct":376,"leadSponsor":378,"locationsCount":379},"100283303","molecular-genetic-study-of-mayer-rokitansky-kuster-hauser-syndrome-100283303","NCT02967822","Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome","Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser","MRKH","Inclusion Criteria:\n\n* Patient with MRKH syndrome OR healthy relative of patient included\n* Having signed the Informed consent form (or parents in case of patient under 18 years)\n\nExclusion Criteria:\n\n* Refusal to participate in genetic analyses\n* Participation in a therapeutical clinical study in the 30 days prior to inclusion in the present study.",{"count":367,"type":19},410,"In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), the research team has to identify molecular bases of this anomaly.\n\nToward this goal, the research team would like to include in the study patients with MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses, especially whole exome sequencing.\n\nThis study has been set up in order to collect biological samples from patients with MRKH and their relatives.",[370],"Mayer Rokitansky Kuster Hauser Syndrome","2018-10-10",{"date":373,"type":38},"2018-10-12",{"date":375,"type":4},"2016-05",{"date":377,"type":19},"2031-05",{"name":44,"class":45},2,""]