| Not Yet Recruiting | Prenatal Transplantation for Fetuses With Fanconi Anemia NCT07408583 | Agnieszka Czechowicz | Phase 1 / Phase 2 |
| Not Yet Recruiting | Health Economic Evaluation of Non-Invasive Prenatal Exclusion Diagnosis NCT07469657 | Assistance Publique - Hôpitaux de Paris | — |
| Recruiting | A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis NCT06917690 | Chiesi Farmaceutici S.p.A. | Phase 3 |
| Recruiting | Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria NCT06337864 | Rigshospitalet, Denmark | N/A |
| Completed | Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers NCT05730842 | Edgewise Therapeutics, Inc. | Phase 1 |
| Completed | Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients NCT05479981 | Avidity Biosciences, Inc. | Phase 2 |
| Recruiting | Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thal NCT05477563 | Vertex Pharmaceuticals Incorporated | Phase 3 |
| Active Not Recruiting | A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy NCT05126758 | Capricor Inc. | Phase 3 |
| Active Not Recruiting | Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia NCT05356195 | Vertex Pharmaceuticals Incorporated | Phase 3 |
| Active Not Recruiting | Evaluating Prenatal Exome Sequencing Study NCT05290701 | Leiden University Medical Center | — |
| Unknown | Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature NCT05070234 | Chunxiu Gong | — |
| Enrolling By Invitation | A Long-term Follow-up Study in Participants Who Received CTX001 NCT04208529 | Vertex Pharmaceuticals Incorporated | Phase 3 |
| Completed | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader NCT05657860 | Maimonides Medical Center | Phase 4 |
| Completed | Whole Genome Sequencing in the Neonatal Intensive Care Unit NCT03721458 | Milton S. Hershey Medical Center | — |
| Completed | Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals NCT03734588 | Spark Therapeutics, Inc. | Phase 1 / Phase 2 |
| Completed | NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children NCT03738098 | Icahn School of Medicine at Mount Sinai | N/A |
| Completed | Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy NCT03876301 | Spark Therapeutics, Inc. | — |
| Completed | Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia NCT03718234 | University of Minnesota | Phase 1 |
| Completed | Study Evaluating Efficacy and Safety of PF-04965842 and Dupilumab in Adult Subjects With Moderate to Severe At NCT03720470 | Pfizer | Phase 3 |
| Completed | A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-Thalassemia NCT03655678 | Vertex Pharmaceuticals Incorporated | Phase 2 / Phase 3 |
| Completed | Effect of Benralizumab in Atopic Dermatitis NCT03563066 | McMaster University | Phase 2 |
| Completed | Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Se NCT03627767 | Pfizer | Phase 3 |
| Completed | A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy NCT03406780 | Capricor Inc. | Phase 2 |
| Completed | Evaluating Innovations in Transition From Pediatric to Adult Care - The Transition Navigator Trial NCT03342495 | University of Calgary | N/A |
| Unknown | Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation NCT03587155 | The First Hospital of Jilin University | — |
| Completed | Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy NCT03179631 | PTC Therapeutics | Phase 3 |
| Unknown | Uterine Irrigation Method in Infertility Patients Who Require PGD NCT02676479 | Istanbul University | N/A |
| Terminated | Natural History Study of Children With Metachromatic Leukodystrophy NCT01963650 | Shire | — |
| Completed | Utilizing Free DNA in Embryo Culture for PGT NCT02884063 | Al Baraka Fertility Hospital | — |
| Terminated | An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy NCT02090959 | PTC Therapeutics | Phase 3 |
| Completed | Pilot Study of Cardiac MR in Patients With Muscular Dystrophy NCT02921321 | Children's National Research Institute | — |
| Completed | Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) NCT01826487 | PTC Therapeutics | Phase 3 |
| Completed | An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients NCT02429947 | University of South Florida | — |
| Completed | An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patie NCT00694109 | Kastle Therapeutics, LLC | Phase 3 |
| Completed | Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemi NCT00607373 | Kastle Therapeutics, LLC | Phase 3 |
| Completed | Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia NCT00477594 | Kastle Therapeutics, LLC | Phase 2 |
| Completed | High-Density Lipoprotein (HDL) Treatment Study NCT00458055 | McGill University Health Centre/Research Institute of the McGill University Health Centre | N/A |
| Completed | Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration NCT00362180 | Kastle Therapeutics, LLC | Phase 2 |
| Completed | Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) NCT00288704 | Regeneron Pharmaceuticals | Phase 3 |
| Available | Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping NCT07250737 | Avidity Biosciences, Inc. | — |