2063 completed, 463 terminated, 382 recruiting, 265 active not recruiting. 3727 Phase 2, 965 Phase 1, 344 Phase 3.
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 |
|---|---|---|---|---|---|---|
| Open-label Pilot Clinical Trial of Oral Ivermectin to Treat Atopic Dermatitis Ivermectin Pill - Atopic Dermatitis | Phase 2 | Withdrawn | Stanford University | 2030-12-01 | 2024-12-02 | |
| 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 |
| Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome NTI164, Placebo - RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome | Phase 2 / Phase 3 | Not yet recruiting | Fenix Innovation Group | 40 | 2027-07-01 | 2026-09-09 |
| 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 |
| Determine the Dose-dependent Efficacy and Safety of EC-18 in Patients With Moderate to Severe Atopic Dermatitis EC-18, Placebo EC-18 - Atopic Dermatitis | Phase 2 | Not yet recruiting | Enzychem Lifesciences Corporation | 150 | 2027-05-01 | 2026-08-28 |
| 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scAAV1.tMCK.NTF3 for Treatment of CMT1A scAAV1.tMCK.NTF3 - Charcot-Marie-Tooth Neuropathy Type 1A | Phase 1 / Phase 2 | Withdrawn | Nationwide Children's Hospital | 2027-04-01 | 2026-07-29 | |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 |
| 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 |
| Efficacy of Mirdametinib Alone or Combination With Radiotherapy for Germline and Sporadic NF1-Altered High-Grade Glioma mirdametinib with radiation, mirdametinib - Neurofibromatosis 1 (NF1) | Phase 2 | Not yet recruiting | University of Alabama at Birmingham | 55 | 2027-01-01 | 2026-10-05 |
| Combination of Avutometinib and Defactinib for Treatment of Relapsed, Refractory, Metastatic, or Unresectable Malignant Peripheral Nerve Sheath Tumor avutometinib capsule + defactinib tablet - MPNST (Malignant Peripheral Nerve Sheath Tumor) | Phase 2 | Not yet recruiting | Girish Dhall, MD | 25 | 2027-01-01 | 2026-10-28 |
| 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 |
| Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia Intravenous infusion, Intrathecal injection, umbilical cord mesenchymal stem cell - Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2 | Phase 2 | Not yet recruiting | Sclnow Biotechnology Co., Ltd. | 45 | 2026-12-31 | 2026-04-23 |
| Aspirin and PAClitaxel in Head & Neck Squamous Cell Carcinoma Aspirin, Paclitaxel - Head and Neck (HNSCC), Head and Neck Squamous Cell Carcinoma (HNSCC) - Recurrent/Metastatic (R/M) | Phase 2 | Not yet recruiting | Washington University School of Medicine | 40 | 2026-12-31 | 2026-10-28 |
| A Study of SAT-3247 to Evaluate the Safety, Tolerability, and Efficacy in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) forazapadin, Placebo Comparator - Facioscapulohumeral Muscular Dystrophy (FSHD) | Phase 2 | Not yet recruiting | Satellos Bioscience, Inc. | 51 | 2026-12-15 | 2026-10-13 |
| Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders AZ-3102 - Niemann-Pick Disease Type C, GM2 Gangliosidosis | Phase 2 / Phase 3 | Not yet recruiting | Azafaros B.V. | 218 | 2026-12-10 | 2026-10-21 |
| CD19-B Cell Depletion in PAIS-ME/CFS Patients Inebilizumab, Placebo - Post-acute Infectious Syndrome (PAIS), Post-COVID 19 Condition (PCC or Long COVID) | Phase 2 | Not yet recruiting | Charite University, Berlin, Germany | 38 | 2026-12-01 | 2026-07-24 |
| Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol) PLX-200 - Lysosomal Storage Disorders, Sandhoff Disease | Phase 2 | Not yet recruiting | Polaryx Therapeutics, Inc. | 24 | 2026-12-01 | 2026-07-31 |
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Dermatitis, Atopic (400) · Anemia, Sickle Cell (293) · Cystic Fibrosis (252) · Muscular Dystrophy, Duchenne (139) · Eczema (98) · beta-Thalassemia (87) · Huntington Disease (76) · Hereditary Sensory and Autonomic Neuropathies (75) · Hemophilia A (72) · Gout (71) · Retinitis Pigmentosa (71) · Thalassemia (71) · Wilms Tumor (67) · Neurofibromatosis 1 (55)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (3723) · Nervous System Diseases (1240) · Nutritional and Metabolic Diseases (976) · Metabolic Diseases (905) · Skin and Connective Tissue Diseases (837) · Hemic and Lymphatic Diseases (762) · Immune System Diseases (708) · Skin Diseases (678) · Metabolism, Inborn Errors (676) · Hematologic Diseases (664) · Heredodegenerative Disorders, Nervous System (649) · Pathological Conditions, Signs and Symptoms (591) · Skin Diseases, Genetic (588) · Central Nervous System Diseases (576)
Cyclophosphamide (66) · Sirolimus (66) · Busulfan (53) · fludarabine (47) · fludarabine phosphate (46) · Hydroxyurea (45) · Alemtuzumab (43) · Whole-Body Irradiation (34) · Sodium Chloride (33) · Antilymphocyte Serum (30) · Mycophenolic Acid (27) · Deferasirox (26) · Everolimus (25) · ivacaftor (25) · Saline Solution (23)
Novartis Pharmaceuticals (74) · National Cancer Institute (NCI) (61) · National Institute of Allergy and Infectious Diseases (NIAID) (42) · BioMarin Pharmaceutical (41) · Pfizer (41) · Assistance Publique - Hôpitaux de Paris (34) · Vertex Pharmaceuticals Incorporated (30) · Shire (29) · National Heart, Lung, and Blood Institute (NHLBI) (28) · Children's Hospital Medical Center, Cincinnati (27) · Hoffmann-La Roche (25) · PTC Therapeutics (24) · Genzyme, a Sanofi Company (23) · Masonic Cancer Center, University of Minnesota (23) · National Center for Research Resources (NCRR) (21)
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PMID 39356039, PMID 36240296, PMID 31401903, PMID 33331662, PMID 37983082, PMID 31215818, PMID 32671834, PMID 36326435, PMID 36463457, PMID 37975597, PMID 38489195, PMID 41385299, PMID 42133908, PMID 19775921, PMID 27657681, PMID 30194931, PMID 34175041, PMID 37254256, PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 19216617, PMID 20236866, PMID 21586746, PMID 26348869, PMID 26529632, PMID 28029918, PMID 29480210, PMID 32187457, PMID 32250312, PMID 32417537, PMID 32593547, PMID 32762706, PMID 32956407, PMID 33395098, PMID 33482890, PMID 34349180, PMID 35075289, PMID 36408587, PMID 36408876, PMID 36511181, PMID 37460385, PMID 37624739, PMID 38649657, PMID 38775255, PMID 40569673, PMID 42002216, PMID 42613652, PMID 15683544
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