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Condition: Genetic Syndrome Synced from ClinicalTrials.gov · July 28, 2026

Recruiting studies: Genetic Syndrome

Studies currently listed as recruiting on the public registry for this search term. Each page explains the study in plain language, with locations and the study team's contact details. Clinicians: generate a printable list for your patient →

Li-Fraumeni Syndrome/TP53 Biobank
Phase N/A · 2 location(s) · Abramson Cancer Center at Penn Medicine · NCT04367246Cycling-Based Priming Coordination Training for Enhancing Ataxia Recovery and Brain Plasticity
NA · 1 location(s) · Chang Gung University · NCT06600269A Study of Participants with Β-Thalassemia Treated with Betibeglogene Autotemcel
Phase N/A · 6 location(s) · Genetix Biotherapeutics Inc. · NCT06271512Phase 2 Randomized Double-blind Study to Assess Topical Zabalafin Hydrogel Vs Vehicle in Mild to Moderate AD.
Phase 2 · 12 location(s) · Alphyn Biologics · NCT06855745Novel Genetic Disorders of the Immune System
Phase N/A · 1 location(s) · National Institute of Allergy and Infectious Diseases (NIAID · NCT02257892Food-Specific and Component IgE Threshold Levels That Predict Food Allergy in People With Elevated Total Serum IgE Level
Phase 2 · 1 location(s) · National Institute of Allergy and Infectious Diseases (NIAID · NCT03835767Topotecan and Melphalan for Retinoblastoma
Phase 3 · 1 location(s) · Sun Yat-sen University · NCT04799002Exercise Training in Transthyretin Cardiac Amyloidosis
NA · 1 location(s) · Brigham and Women's Hospital · NCT05797857Cardiac Structure and Function in MPS
Phase N/A · 3 location(s) · Children's Hospital of Orange County · NCT07361536A Phase 2 Trial of Dotinurad in Xanthine Oxidase Inhibitor (XOI) Intolerant/Uricase Failure Gout Participants
Phase 2 · 17 location(s) · Crystalys Therapeutics · NCT07535034Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI
Phase 2 · 1 location(s) · Assistance Publique - Hôpitaux de Paris · NCT06887777Mirdametinib in Patients With Advanced NF1-mutant Melanoma
Phase 2 · 1 location(s) · Kevin Kim, MD · NCT07237100A Gaucher Disease Gene Therapy Trial With FLT201
Phase 3 · 33 location(s) · Spur Therapeutics · NCT07223944Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW)
Phase 2 · 43 location(s) · Vertex Pharmaceuticals Incorporated · NCT07161037Tolerance and Efficacy Open-label Study With RV4421B, in Various Populations With Atopic Dermatitis for 12 Weeks
NA · 1 location(s) · Pierre Fabre Dermo Cosmetique · NCT07014007Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy
Phase N/A · 1 location(s) · National Institute of Allergy and Infectious Diseases (NIAID · NCT07416201Modified Orbital Decompression in the Treatment of Moderate-to-severe Grave's Ophthalmopathy
NA · 1 location(s) · Sun Yat-sen University · NCT06588764Utility of PCD Diagnostics to Improve Clinical Care
NA · 1 location(s) · Vanderbilt University Medical Center · NCT03704207The Severe Von Willebrand Disease (sVWD) Patient Registry
Phase N/A · 1 location(s) · VWD Connect Foundation · NCT05437536A Personalized Surveillance and Intervention Protocol for Patients With Familial Adenomatous Polyposis That Have Undergo
Phase N/A · 2 location(s) · Academisch Medisch Centrum - Universiteit van Amsterdam (AMC · NCT04678011Identification of Cutaneous and Blood Biomarkers Predictive of Response to Systemic Treatments During Chronic Inflammato
Phase N/A · 1 location(s) · Assistance Publique - Hôpitaux de Paris · NCT06599411A Study to Test a Medicine (Fitusiran) for Preventing Bleeds in People With Severe Hemophilia Who Previously Received Pr
Phase 4 · 2 location(s) · Sanofi · NCT06145373The Application of T1 Mapping in Real-World
Phase N/A · 1 location(s) · Chinese Academy of Medical Sciences, Fuwai Hospital · NCT07354646A Study of JNJ-95597528 in Participants With Moderate to Severe Atopic Dermatitis
Phase 2 · 62 location(s) · Janssen Research & Development, LLC · NCT07230860This Study is a Non-interventional Disease Registry of Adolescent and Adult Patients With Atopic Dermatitis Who Initiate
Phase N/A · 59 location(s) · Sanofi · NCT07290803Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, a
Phase N/A · 1 location(s) · National Institute of Arthritis and Musculoskeletal and Skin · NCT03510442Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Phase N/A · 1 location(s) · National Human Genome Research Institute (NHGRI) · NCT00001456Assessment of Physician Consideration of EPRO's, from Patients with Gout, Rheumatoid Arthritis, Sjogren's Syndrome or Sy
Phase N/A · 1 location(s) · University Hospital, Strasbourg, France · NCT05927688SUCCESS Score Validation in Fuchs Dystrophy
Phase N/A · 1 location(s) · Instituto Ramón y Cajal de Investigación Sanitaria · NCT07265388Observing the Efficacy and Safety of Different Drugs Used in Real-world Familial Mediterranean Fever (FMF) Cases
Phase N/A · 1 location(s) · Tongji Hospital · NCT07077473
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This page is independently generated by Eichor from the public ClinicalTrials.gov record and re-synced daily. It is not the sponsor's official website unless claimed. Nothing here is medical advice; eligibility is always determined by the study team — talk to your own doctor first.