Genetic Diseases, Inborn: Clinical Trials

9253 completed, 2254 recruiting, 1946 unknown, 1241 terminated. 3727 Phase 2, 3657 Not applicable, 2420 Phase 1, 2123 Phase 3, 802 Phase 4.

By phase and status

Phase	Trials	Status
Phase 2	3727	Completed 2063, Terminated 463, Recruiting 384, Active not recruiting 263, Unknown 247, Withdrawn 147, Not yet recruiting 111, Enrolling by invitation 36, Suspended 13
Not applicable	3657	Completed 2010, Unknown 561, Recruiting 449, Not yet recruiting 169, Terminated 168, Active not recruiting 138, Withdrawn 104, Enrolling by invitation 50, Suspended 8
Phase 1	2420	Completed 1416, Recruiting 305, Terminated 238, Active not recruiting 154, Unknown 127, Withdrawn 80, Not yet recruiting 70, Enrolling by invitation 19, Suspended 11
Phase 3	2123	Completed 1274, Terminated 228, Recruiting 179, Active not recruiting 158, Unknown 128, Withdrawn 70, Not yet recruiting 60, Enrolling by invitation 24, Suspended 2
Phase 4	802	Completed 471, Unknown 94, Recruiting 71, Terminated 71, Withdrawn 37, Active not recruiting 28, Not yet recruiting 27, Enrolling by invitation 3
Early Phase 1	179	Completed 75, Recruiting 31, Terminated 21, Unknown 21, Active not recruiting 14, Not yet recruiting 9, Withdrawn 6, Enrolling by invitation 2

Follow Genetic Diseases, Inborn: new trials by email Literature Review of Genetic Diseases, Inborn trials Research Report on Genetic Diseases, Inborn

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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
Effect of S. Aureus Skin Decolonization on Disease Severity in Atopic Dermatitis Patients Skin Cleanser Combination No.1 - Atopic Dermatitis	Phase 4	Not yet recruiting	Boston Children's Hospital	100	2031-01-01	2026-03-10
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Pilot Clinical Trial of Oral Ivermectin to Treat Atopic Dermatitis Ivermectin Pill - Atopic Dermatitis	Phase 2	Withdrawn	Stanford University		2030-12-01	2024-12-02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
To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria GS1168 injection - Phenylketonuria (PKU)	Early Phase 1	Not yet recruiting	Gritgen Therapeutics Co., Ltd.	9	2027-12-31	2026-09-10
Self-administered Acupressure in Patients With Sickle Cell Disease Verum Acupressure (using AcuWand), Sham Acupressure (using AcuWand) - Sickle Cell Disease (SCD)	Not applicable	Not yet recruiting	University of Cincinnati	300	2027-10-01	2026-10-15
Development of a Provider-Focused Intervention to Improve Health Outcomes in Pediatric Sickle Cell Disease Individuation and Perspective-Taking (IPT), pediatric SCD pain management education session - Sickle Cell Disease, Sickle Cell Anemia in Children	Not applicable	Not yet recruiting	Connecticut Children's Medical Center	30	2027-09-01	2026-04-29
Evaluation of Efficacy and Safety of a Single Dose of Exa-cel in Participants With Severe Sickle Cell Disease, βS/ βC Genotype Exa-cel - Sickle Cell Disease	Phase 3	Withdrawn	Vertex Pharmaceuticals Incorporated		2027-07-31	2026-03-25
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
Lentiviral Gene Therapy for CGD Infusion of lentiviral TYF-CGD-modified autologous stem cells - Chronic Granulomatous Disease	Not applicable	Not yet recruiting	Shenzhen Geno-Immune Medical Institute	10	2027-07-01	2026-08-26
Open-Label Extension Study of MHB018A in Patients With Thyroid Eye Disease MHB018A injection - Thyroid Eye Disease (TED)	Phase 3	Not yet recruiting	Minghui Pharmaceutical (Hangzhou) Ltd	219	2027-07-01	2026-06-04
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
Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD Lentiviral TYF-ARSA correction of patient's autologous HSCs - Metachromatic Leukodystrophy (MLD)	Not applicable	Not yet recruiting	Shenzhen Geno-Immune Medical Institute	10	2027-06-01	2026-09-01
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
IT and IV Lentiviral Gene Therapy for X-ALD Intrathecal and intravenous LV gene therapy - X-linked Adrenoleukodystrophy	Not applicable	Not yet recruiting	Shenzhen Geno-Immune Medical Institute	30	2027-06-01	2026-09-01
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
Direct Lentiviral Injection Gene Therapy for MLD Intrathecal and intravenous LV gene therapy - Metachromatic Leukodystrophy (MLD)	Not applicable	Not yet recruiting	Shenzhen Geno-Immune Medical Institute	10	2027-05-31	2026-09-01
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
Abrocitinib Treatment of Atopic Dermatitis in Children 2 to Less Than 6 Years of Age Abrocitinib, Placebo - Atopic Dermatitis	Phase 3	Not yet recruiting	Pfizer	90	2027-05-01	2026-09-16
Post Approval Phase 4 Study to Learn More About How Safe Octocog Alfa is, and How Well it Works in Patients With Severe Hemophilia A in India Octocog alfa - Severe Hemophilia A		Not yet recruiting	Bayer	30	2027-04-05	2026-10-21

Showing 20 of 17060. Sign in to see all of them.

Narrower conditions

Cystic Fibrosis (1580)  ·  Dermatitis, Atopic (1509)  ·  Anemia, Sickle Cell (1118)  ·  Hemophilia A (788)  ·  Muscular Dystrophy, Duchenne (479)  ·  Down Syndrome (433)  ·  Eczema (328)  ·  Gout (307)  ·  Huntington Disease (292)  ·  Retinitis Pigmentosa (268)  ·  beta-Thalassemia (264)  ·  Hemophilia B (260)  ·  Rare Diseases (248)  ·  Fabry Disease (243)

Broader conditions

Congenital, Hereditary, and Neonatal Diseases and Abnormalities (17041)  ·  Nervous System Diseases (5516)  ·  Nutritional and Metabolic Diseases (4657)  ·  Metabolic Diseases (4340)  ·  Skin and Connective Tissue Diseases (3422)  ·  Hemic and Lymphatic Diseases (3407)  ·  Metabolism, Inborn Errors (3275)  ·  Hematologic Diseases (3058)  ·  Pathological Conditions, Signs and Symptoms (2875)  ·  Immune System Diseases (2860)  ·  Skin Diseases (2819)  ·  Central Nervous System Diseases (2774)  ·  Congenital Abnormalities (2626)  ·  Brain Diseases (2551)

Interventions

Blood Specimen Collection (191)  ·  Factor VIII (136)  ·  ivacaftor (109)  ·  Cyclophosphamide (107)  ·  Surveys and Questionnaires (107)  ·  Sirolimus (96)  ·  Exercise (94)  ·  Hydroxyurea (89)  ·  Sodium Chloride (89)  ·  dupilumab (86)  ·  Busulfan (76)  ·  fludarabine (73)  ·  fludarabine phosphate (64)  ·  Saline Solution (63)  ·  Alemtuzumab (61)

Sponsors

Assistance Publique - Hôpitaux de Paris (285)  ·  Pfizer (198)  ·  Novartis Pharmaceuticals (183)  ·  National Institute of Allergy and Infectious Diseases (NIAID) (146)  ·  National Cancer Institute (NCI) (143)  ·  Vertex Pharmaceuticals Incorporated (138)  ·  National Heart, Lung, and Blood Institute (NHLBI) (121)  ·  Hospices Civils de Lyon (117)  ·  Novo Nordisk A/S (114)  ·  Shire (102)  ·  BioMarin Pharmaceutical (100)  ·  Assiut University (99)  ·  Children's Hospital Medical Center, Cincinnati (99)  ·  Massachusetts General Hospital (97)  ·  Takeda (90)

Countries

United States (7911)  ·  France (2234)  ·  United Kingdom (1878)  ·  Germany (1600)  ·  Canada (1599)  ·  Italy (1441)  ·  Spain (1261)  ·  China (958)  ·  Australia (898)  ·  Netherlands (873)  ·  Belgium (701)  ·  Poland (627)  ·  Turkey (Türkiye) (617)  ·  Japan (526)  ·  Israel (513)

Results publications

PMID 39356039, PMID 37983082, PMID 33331662, PMID 36326435, PMID 31401903, PMID 37975597, PMID 36240296, PMID 39588375, PMID 31215818, PMID 33826132, PMID 40750723, PMID 41385299, PMID 30194931, PMID 33735508, PMID 33825230, PMID 33874971, PMID 37250503, PMID 37254256, PMID 37319354, PMID 39151033, PMID 42162528, PMID 27657681, PMID 32573764, PMID 32671834, PMID 34406619, PMID 36255569, PMID 36463457, PMID 36723913, PMID 37460385, PMID 38775255, PMID 38896380, PMID 40739200, PMID 40993471, PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 19775921, PMID 20236866, PMID 24144944, PMID 25075835, PMID 26196195, PMID 33165005, PMID 34256305, PMID 35061234, PMID 36408587, PMID 36449262, PMID 38489195, PMID 38649657, PMID 39104653

NIH funding

2023 (134), 2018 (116), 2017 (100), 2015 (91), 2016 (86), 2019 (81), 2025 (75), 2014 (68), 2009 (51), 2008 (41), U10CA180886 (28), U54NS065768 (19), 2005 (15), U10CA098543 (15), 2004 (10)