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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated CiliopathiesPathologic Processes, Pathological Conditions, Signs and Symptoms, disease, nephronophthisis, nephronophthisis 1RecruitingNot applicable2026-10-05NCT06648044
Natural History of Type 1 Interferonopathies: Insights From a European CohortCongenital, Hereditary, and Neonatal Diseases and Abnormalities, autoimmune disease, hereditary disease, immune system disorder, nervous system disorderRecruitingNot stated2026-09-10NCT07040774
Contribution of 3D Modeling in Surgical Management of Pediatric Retroperitoneal and Pelvic TumorsNeoplasms by Site, Pelvic Neoplasms, neoplasmRecruitingNot stated2026-09-10NCT06418243
COVID-19 in PID SurveyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Primary Immunodeficiency Diseases, hereditary disease, immune system disorder, inborn error of immunityRecruitingNot stated2026-09-10NCT04459689
Longitudinal Assessment of Protein Markers in the Cerebrospinal Fluid of Patients With Central Nervous System Involvementcentral nervous system disorder, nervous system disorderNot yet recruitingNot stated2026-09-09NCT07313098
Pathophysiological Explorations of Red Blood Cellserythrocyte disorderRecruitingNot stated2026-09-09NCT03541525
Standard of Care Comparative Arm of Phase 1/2 Gene Therapy Trial DREPAMIR" in Severe Sickle Cell Disease PatientsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Vaso-Occlusive Crises, anemia, familial hemolytic anemia, hematologic disorder, hemolytic anemia, hereditary disease, inherited hemoglobinopathy, sickle cell diseaseNot yet recruitingNot applicable2026-08-07NCT07752043
MOLECULAR BASIS OF LANGUAGE DEVELOPMENT AND ASSOCIATED DISORDERSLanguage Development Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, communication disorder, language disorder, nervous system disorderRecruitingNot applicable2026-07-07NCT06660108
Epidemiological Data on Mast Cell Pathologies in FranceMast Cell Activation Disorders, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, connective tissue neoplasm, immune system disorder, mastocytosis, neoplasmRecruitingNot stated2026-04-22NCT06186856
Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic DisabilityDisease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare DiseasesRecruitingNot stated2026-04-14NCT07527624
Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical DiabetesNutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, diabetes mellitus, disease, endocrine system disorder, glucose metabolism disease, metabolic diseaseRecruitingNot applicable2026-04-09NCT06570278
Efficacy Safety Study of Gene Therapy for Sickle Cell DiseaseSCD Using Autologous CD34+ Cells Transduced ex Vivo, Carrying a Corrected Globin Gene and a Silencing RNA.Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Vaso-Occlusive Crises, anemia, familial hemolytic anemia, hematologic disorder, hemolytic anemia, hereditary disease, inherited hemoglobinopathy, sickle cell diseaseRecruitingPhase 1 / Phase 22026-03-04NCT07432867
FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot ProjectsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Disease Attributes, Facies, Musculoskeletal Abnormalities, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, musculoskeletal system disorderRecruitingNot stated2026-02-20NCT07422454
Automatic Phenotyping of Patients on 2D PhotographyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Orphan Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare DiseasesRecruitingNot stated2026-01-12NCT06219421
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological DysfunctionsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, autoimmune disease, hereditary disease, immune system disorder, nervous system disorderRecruitingNot stated2025-12-19NCT06235580
Pathogenic Study of Adult Immune EnteropathiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, autoimmune enteropathy, celiac disease, digestive system disorder, gastroenteritis, hereditary disease, immune system disorder, inborn error of immunity, inflammatory bowel disease, intestinal disorder, malabsorption syndrome, metabolic diseaseRecruitingNot stated2025-09-18NCT04280510
Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Datadevelopmental and epileptic encephalopathyRecruitingNot stated2025-06-29NCT06380192
Characterization of Phenotype and Genotype of Early Onset EnteropathiesDigestive System Diseases, digestive system disorder, gastroenteritis, inflammatory bowel disease, intestinal disorderRecruitingNot stated2025-04-30NCT02614911
Mapping Epileptic Networks Using Multimodal Imagingbrain disorder, central nervous system disorder, epilepsy, focal epilepsy, nervous system disorderRecruitingNot stated2025-04-17NCT06202976
Diffusion Endometriosis MRI to Detect and Quantify Symptomatic Neurological Impairment in Pelvic EndometriosisFemale Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Urogenital Diseases, endometriosis, female reproductive system disorderNot yet recruitingNot applicable2025-04-03NCT06908655
Juvenile Recurrent Respiratory Papillomatosis: Establishment of a French National Cohort (PRR : National Cohort " REPA ")Juvenile Recurrent Respiratory PapillomatosisRecruitingNot stated2023-08-21NCT06000527
Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser SyndromeMayer-Rokitansky-Kuster-Hauser syndrome, mullerian aplasiaRecruitingNot stated2018-10-12NCT02967822