| Not Yet Recruiting | Longitudinal Assessment of Protein Markers in the Cerebrospinal Fluid of Patients With Central Nervous System Neurologic Disorder, Central Nervous System Diseases | — | 2026-03-01 |
| Recruiting | FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects Craniofacial Abnormalities | — | 2025-10-16 |
| Recruiting | Natural History of Type 1 Interferonopathies: Insights From a European Cohort Genetic Disease, Immune Dysfunction, Neurological Diseases or Conditions | — | 2025-10-01 |
| Recruiting | Automatic Phenotyping of Patients on 2D Photography Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales | — | 2025-01-01 |
| Recruiting | Epidemiological Data on Mast Cell Pathologies in France Mast Cell Disorder | — | 2024-11-01 |
| Recruiting | Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data Developmental and Epileptic Encephalopathy | — | 2024-10-31 |
| Completed | Evaluation of the French Version of the PEERS Social Skills Training Program for Adolescents With Rare Neurode Neurodevelopmental Disorders, Rare Diseases | — | 2024-05-01 |
| Recruiting | Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability Rare Diseases | — | 2024-01-08 |
| Terminated | International Multicenter Study on Lipin-1 Deficiency Lipin-1 Deficiency | — | 2023-11-24 |
| Recruiting | Juvenile Recurrent Respiratory Papillomatosis: Establishment of a French National Cohort (PRR : National Cohor Juvenile Recurrent Respiratory Papillomatosis | — | 2022-10-01 |
| Completed | Characterization and Recognition of Genetic Diseases by Photography Dysmorphology, Orphan Diseases | — | 2022-01-02 |
| Unknown | Pediatric Kidney Transplant End Stage Renal Disease, Pediatric ALL, Kidney Transplant; Complications | — | 2021-10-01 |
| Completed | Survey of Lifestyle and Its Feelings in Families of Patients in Home Parenteral Nutrition Home Parenteral Nutrition | — | 2021-09-01 |
| Completed | European Study of Cerebral Aspergillosis Treated With Isavuconazole Cerebral Aspergillosis, Invasive Aspergillosis | — | 2021-08-01 |
| Completed | Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases Tuberous Sclerosis, Epilepsy | — | 2021-07-01 |
| Unknown | COVID-19 and Rare Skin Diseases European Observational Study During an Epidemic Rare Diseases | — | 2020-06-30 |
| Unknown | Cardiac and Thoracic Imaging in Pediatric Patients With Evidence of Systemic Inflammation COVID19 Linked COVID-19 Infection | — | 2020-06-15 |
| Recruiting | COVID-19 in PID Survey Primary Immune Deficiency, COVID | — | 2020-03-15 |
| Completed | CHP-BV Followed by Consolidation With High-dose Therapy / ASCT as Frontline Treatment of Patients With EATL Ty Enteropathy Associated T-cell Lymphoma | Phase 2 | 2018-02-07 |
| Recruiting | Pathophysiological Explorations of Red Blood Cells Red Blood Cell Disorder | — | 2017-10-16 |
| Recruiting | Mapping Epileptic Networks Using Multimodal Imaging Epilepsy in Children | — | 2017-09-14 |
| Completed | Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin S Pierre Robin Syndrome | — | 2016-07-01 |
| Recruiting | Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Mayer Rokitansky Kuster Hauser Syndrome | — | 2016-05-01 |
| Completed | Computational Anatomy in Surgery for Childhood Tumours and Malformations Malformation, Tumor, Paediatric Surgery | — | 2016-04-16 |
| Recruiting | Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies Nephronophthisis, NPH1, Autosomal | N/A | 2016-02-01 |
| Completed | Evaluation of the Efficacy of the Sequencing Method by Gene-panel Primary Immuno-Deficiencies | N/A | 2016-02-01 |
| Recruiting | Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions Genetic Diseases, Immune Dysfunction, Neurological Disease | — | 2015-12-28 |
| Terminated | Evaluation of a Kit for the Prediction of the Risk of Graft Versus Host Disease Hemopathy | N/A | 2015-11-01 |
| Completed | Sickle Cell Anemia and Cerebral Microcirculation : Multimodal Exploration Sickle Cell Disease | — | 2015-03-02 |
| Completed | Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease Primary Immune Deficiencies | — | 2015-02-01 |
| Recruiting | Characterization of Phenotype and Genotype of Early Onset Enteropathies Inflammatory Bowel Disease | — | 2014-06-16 |