1416 completed, 305 recruiting, 238 terminated, 154 active not recruiting. 2420 Phase 1, 965 Phase 2.
Follow Genetic Diseases, Inborn: new trials by email Literature Review of Genetic Diseases, Inborn trials Research Report on Genetic Diseases, Inborn
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Prenatal Transplantation for Fetuses With Fanconi Anemia IUHSCT for FA-affected fetuses - Fanconi Anemia, Anemia, Hypoplastic, Congenital | Phase 1 / Phase 2 | Not yet recruiting | Agnieszka Czechowicz | 12 | 2028-01-01 | 2026-06-16 |
| Epidermal Growth Factor Receptor Inhibition for Keratinopathies Erlotinib - Epidermolytic Ichthyosis, Palmoplantar Keratoderma | Phase 1 / Phase 2 | Not yet recruiting | Northwestern University | 44 | 2027-07-01 | 2026-08-03 |
| SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection Direct intravenous injection of ivlv-X1 lentiviral vector - SCID, X-Linked | Phase 1 / Phase 2 | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-06-30 | 2026-08-27 |
| Lentiviral FIX Gene Therapy YUVA-GT-F901 - Hemophilia B | Phase 1 | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-06-01 | 2026-08-26 |
| Lentiviral FVIII Gene Therapy YUVA-GT-F801 - Hemophilia A | Phase 1 | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-06-01 | 2026-09-01 |
| Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A scAAV1.tMCK.NTF3 - Charcot-Marie-Tooth Neuropathy Type 1A | Phase 1 / Phase 2 | Withdrawn | Nationwide Children's Hospital | 2027-04-01 | 2026-07-29 | |
| A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus) Glycerol Tributyrate - MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus) | Phase 1 / Phase 2 | Not yet recruiting | George Washington University | 24 | 2027-03-01 | 2026-10-05 |
| Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB rAAV9-CMV-hNAGLUop - Sanfilippo Syndrome (MPS III) | Phase 1 / Phase 2 | Not yet recruiting | NeuroGT | 9 | 2027-01-18 | 2026-09-14 |
| Regenerative Medicine for Joint Hypermobility and Instability Dextrose 20% Prolotherapy, Autologous Platelet-Rich Plasma, Doxycycline Hyclate Injectable (Investigational) - Ehlers-Danlos Syndrome Hypermobility Type (hEDS), Ehlers-Danlos Syndrome (EDS) | Phase 1 / Phase 2 | Not yet recruiting | Manhattan Pain Medicine, PLLC | 100 | 2027-01-15 | 2026-10-06 |
| A Safety Study of ST316 in Participants With Familial Adenomatous Polyposis (FAP). ST316 IV - Familial Adenomatous Polyposis (FAP) | Phase 1 | Not yet recruiting | Sapience Therapeutics | 40 | 2027-01-04 | 2026-08-12 |
| Prenatal Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Clinical Trial Gene Transfer with an AAV9 Vector Expressing Human ß-galactosidase - GM1 Gangliosidoses, GM1 Gangliosidosis, Type I | Phase 1 | Not yet recruiting | Tippi Mackenzie | 5 | 2027-01-01 | 2026-08-31 |
| Outside the Cage (OTC) Robotic Esophagectomy OTC MIE Esophagectomy - Esophageal Cancer | Phase 1 | Not yet recruiting | Centre hospitalier de l'Université de Montréal (CHUM) | 31 | 2027-01-01 | 2026-03-18 |
| Mesenchymal Cell Therapy in Osteogenesis Imperfecta (OI) Bone marrow-derived mesenchymal stromal cells (MSCs) - Osteogenesis Imperfecta, Osteogenesis Imperfecta Type III | Phase 1 / Phase 2 | Not yet recruiting | Emory University | 12 | 2027-01-01 | 2026-05-08 |
| 4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma GD2, PSMA and CD276 CAR-T cells - Neuroblastoma | Phase 1 / Phase 2 | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 100 | 2026-12-31 | 2026-09-01 |
| Calcium Channel Blocker in Myotonic Dystrophy Type 1 Amlodipine - Myotonic Dystrophy 1 | Phase 1 | Not yet recruiting | University of Rochester | 20 | 2026-12-07 | 2025-12-09 |
| Minocycline In Neurocognitive Outcomes - Sickle Cell Disease Minocycline, Placebo - Sickle Cell Disease, Cognitive Impairment | Phase 1 | Not yet recruiting | University of Cincinnati | 30 | 2026-12-01 | 2026-05-14 |
| Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis baricitinib - Hyper IgE Syndrome From STAT3 Mutation, Job s Syndrome | Phase 1 | Recruiting | National Institute of Allergy and Infectious Diseases (NIAID) | 20 | 2026-11-02 | 2026-10-28 |
| Feasibility and Acceptability of Amani Amani - Sickle Cell Disease | Phase 1 / Phase 2 | Not yet recruiting | Massachusetts General Hospital | 40 | 2026-11-01 | 2026-08-07 |
| Safety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU) scAAV9/AGA - Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency | Phase 1 / Phase 2 | Enrolling by invitation | Rare Trait Hope | 9 | 2026-11-01 | 2026-10-27 |
| EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C) Drug: EDIT-401, Placebo - Heterozygous Familial Hypercholesterolemia (HeFH) | Phase 1 / Phase 2 | Not yet recruiting | Editas Medicine, Inc. | 56 | 2026-11-01 | 2026-10-26 |
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Dermatitis, Atopic (224) · Cystic Fibrosis (187) · Anemia, Sickle Cell (182) · Hemophilia A (98) · Muscular Dystrophy, Duchenne (93) · Wilms Tumor (72) · Retinitis Pigmentosa (66) · Huntington Disease (57) · Gout (56) · Hereditary Sensory and Autonomic Neuropathies (55) · Hemophilia B (52) · Neuroblastoma (52) · Lecithin Cholesterol Acyltransferase Deficiency (50) · Neoplasms (44)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (2416) · Nervous System Diseases (782) · Nutritional and Metabolic Diseases (667) · Metabolic Diseases (628) · Hemic and Lymphatic Diseases (522) · Metabolism, Inborn Errors (504) · Skin and Connective Tissue Diseases (483) · Hematologic Diseases (463) · Immune System Diseases (436) · Central Nervous System Diseases (386) · Skin Diseases (384) · Heredodegenerative Disorders, Nervous System (370) · Brain Diseases (354) · Pathological Conditions, Signs and Symptoms (347)
Sirolimus (36) · fludarabine (27) · Busulfan (26) · Cyclophosphamide (26) · Sodium Chloride (24) · Alemtuzumab (22) · Filgrastim (19) · Injections (19) · Factor VIII (16) · Hydroxyurea (16) · fludarabine phosphate (15) · Granulocyte Colony-Stimulating Factor (14) · Metformin (14) · Saline Solution (14) · ivacaftor (14)
National Institute of Allergy and Infectious Diseases (NIAID) (43) · Pfizer (43) · Vertex Pharmaceuticals Incorporated (33) · National Cancer Institute (NCI) (32) · Novo Nordisk A/S (32) · Bayer (26) · AstraZeneca (23) · Novartis Pharmaceuticals (22) · BioMarin Pharmaceutical (20) · Children's Hospital Medical Center, Cincinnati (20) · GlaxoSmithKline (20) · National Heart, Lung, and Blood Institute (NHLBI) (19) · Sarepta Therapeutics, Inc. (19) · Shire (16) · Hoffmann-La Roche (15)
United States (1409) · United Kingdom (305) · China (175) · Canada (170) · Germany (168) · Australia (162) · France (160) · Spain (127) · Netherlands (95) · Italy (93) · Japan (62) · Belgium (54) · Israel (49) · New Zealand (48) · South Korea (48)
John F Tisdale, M.D. (10)
PMID 33331662, PMID 37983082, PMID 31215818, PMID 30194931, PMID 36240296, PMID 37624739, PMID 42133908, PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 25495795, PMID 29480210, PMID 31401903, PMID 32250312, PMID 32573764, PMID 35075289, PMID 36299240, PMID 36463457, PMID 37171121, PMID 37539981, PMID 38489195, PMID 39356039, PMID 40739200, PMID 41388232, PMID 15100156, PMID 17284531, PMID 17562928, PMID 17880439, PMID 22149959, PMID 22547151, PMID 22634621, PMID 23607606, PMID 24916507, PMID 25295500, PMID 25421091, PMID 25824692, PMID 25919461, PMID 26348869, PMID 26589907, PMID 27009167, PMID 29224506, PMID 29526614, PMID 29688815, PMID 29976218, PMID 30261899, PMID 32671834, PMID 33332761, PMID 33980287
2023 (27), 2025 (21), 2014 (20), 2015 (19), 2018 (19), 2016 (18), 2017 (17), 2019 (11), 2009 (8), K12HD043494 (4), P30CA033572 (4), R01AI047040 (4), R01AI054843 (4), 2008 (3), P30CA015704 (3)