473 completed, 94 unknown, 71 terminated, 69 recruiting. 804 Phase 4.
| Phase | Trials | Status |
|---|---|---|
| Phase 4 | 804 | Completed 473, Unknown 94, Terminated 71, Recruiting 69, Withdrawn 37, Not yet recruiting 29, Active not recruiting 28, Enrolling by invitation 3 |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 |
|---|---|---|---|---|---|---|
| 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 |
| A Study to Investigate the Transition of Children From 'Artisanal" Cannabidiol (CBD) to Epidiolex Epidiolex 100 mg/mL Oral Solution - Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS) | Phase 4 | Not yet recruiting | Elizabeth Donner | 25 | 2027-01-01 | 2026-09-11 |
| Opzelura Experience Study ruxolitinib, ruxolitinib and an Eczema Action Plan - Atopic Dermatitis | Phase 4 | Not yet recruiting | Wake Forest University Health Sciences | 50 | 2026-12-01 | 2026-09-04 |
| A Study to Investigate the Effect of Gradual Titration to Optimize Cannabidiol Treatment in Adults With LGS Cannabidiol Oral Solution - Lennox-Gastaut Syndrome | Phase 4 | Not yet recruiting | Jazz Pharmaceuticals | 40 | 2026-11-18 | 2026-10-22 |
| AD Treatment Optimization With Ebglyss in Real-World Practice: A Multicenter Study of Patient-Centered Outcomes Lebrikizumab-lbkz - Atopic Dermatitis | Phase 4 | Not yet recruiting | Forefront Dermatology S.C | 250 | 2026-11-11 | 2026-10-02 |
| Phase 4 Master Protocol for Patients Prescribed Prademagene Zamikeracel for the Treatment of Wounds Non-conforming pz-cel surgical application to RDEB wounds, Additional biopsies, Pz-cel surgical application to DEB wounds - Epidermolysis Bullosa (EB), Recessive Dystrophic Epidermolysis Bullosa (RDEB) | Phase 4 | Not yet recruiting | Abeona Therapeutics, Inc | 100 | 2026-11-01 | 2026-08-06 |
| Emerging Indications for Hyperbaric Oxygen Treatment Hyperbaric oxygen treatment (HBOT), 100% Oxygen - Post-COVID-19 Condition, Ulcerative Colitis | Phase 4 | Not yet recruiting | Jay C. Buckey Jr. | 100 | 2026-11-01 | 2026-09-09 |
| A Study of TAK-664 in People With Primary Immunodeficiency Diseases Who Have Not Yet Been Treated With Immunoglobulins TAK-664 - Primary Immunodeficiency Diseases (PID) | Phase 4 | Not yet recruiting | Takeda | 9 | 2026-11-01 | 2026-09-08 |
| Iron Repletion in Cystic Fibrosis IV Repletion, PO Repletion - Cystic Fibrosis, Iron Deficiencies | Phase 4 | Not yet recruiting | University of Michigan | 100 | 2026-11-01 | 2026-10-29 |
| Study to Evaluate the Safety and Effectiveness of ELEVIDYS in Participants With Duchenne Muscular Dystrophy Treated in a Post-Marketing Setting ELEVIDYS, Sirolimus, Glucocorticoids - Duchenne Muscular Dystrophy | Phase 4 | Recruiting | Sarepta Therapeutics, Inc. | 20 | 2026-10-30 | 2026-10-06 |
| A Study to Investigate Dupixent/ Dupilumab in Adult Indian Participants With Moderate-to-severe Atopic Dermatitis Dupilumab - Atopic Dermatitis | Phase 4 | Not yet recruiting | Sanofi | 56 | 2026-10-28 | 2026-10-29 |
| Abrocitinib Dose Tapering in Patients With Atopic Dermatitis Abrocitinib - Atopic Dermatitis | Phase 4 | Not yet recruiting | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | 100 | 2026-10-01 | 2026-09-29 |
| Adaptive Platform Trial for Pain Management in Sickle Cell Vaso-Occlusive Crisis Group 02 Paracetamol + Morphine + Ketamine, Group 01 Control: Paracetamol + Morphine, Group 03 : Paracetamol + Morphine + Nefopam - Sickle Cell Disease, Vaso-occlusive Crisis | Phase 4 | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 400 | 2026-10-01 | 2026-09-18 |
| Phase 4, Double-blind Study Evaluating the Response on Computed Tomography (CT) Lung Density Decline Rates of Respreeza / Zemaira Weekly for 3 Years in Adults With alpha1 Antitrypsin Deficiency (AATD) CE1226 - Alpha1 Antitrypsin Deficiency, Alpha1-Proteinase Inhibitor Deficiency | Phase 4 | Recruiting | CSL Behring | 270 | 2026-09-29 | 2026-10-16 |
| Pharmacokinetics of Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Elexacaftor, Tezacaftor, Ivacaftor, Ivacaftor (VX-770) - Cystic Fibrosis (CF) | Phase 4 | Recruiting | Istituto Giannina Gaslini | 50 | 2026-09-18 | 2026-10-14 |
| Mazdutide for Weight Management and Gout in Adults With Obesity Mazdutide - Gout, Obesity (BMI>30) | Phase 4 | Not yet recruiting | Hongwei Jiang | 30 | 2026-09-15 | 2026-09-17 |
| Prophylactic Transfusion In Pregnant in Women With Sickle Cell Disease Prophylactic Transfusion Intervention group: Transfusion, Control group - Sickle Cell Disease, Pregnancy Related | Phase 4 | Withdrawn | Emory University | 2026-09-01 | 2026-10-19 | |
| An Open-Label Trial of Veligrotug in Participants With Thyroid Eye Disease Who Previously Responded to Teprotumumab veligrotrug (LUMVOA™) - Thyroid Eye Disease | Phase 4 | Not yet recruiting | Viridian Therapeutics, Inc. | 30 | 2026-09-01 | 2026-09-21 |
| Safety and Effectiveness of Sebetralstat (KVD900) for Short-Term Prophylaxis Before Procedures in People With Hereditary Angioedema (KONTROL) KVD900 600 mg - Hereditary Angioedema | Phase 4 | Recruiting | KalVista Pharmaceuticals, Ltd. | 100 | 2026-08-17 | 2026-09-17 |
| The Impact of Dietary Salt on the Severity of Eczema Sodium chloride tablets, Placebo Tablets - Eczema, Atopic Dermatitis | Phase 4 | Recruiting | University of California, San Francisco | 40 | 2026-08-10 | 2026-09-10 |
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Dermatitis, Atopic (136) · Cystic Fibrosis (88) · Hemophilia A (67) · Anemia, Sickle Cell (38) · Gout (31) · Eczema (25) · Graves Ophthalmopathy (25) · Glycogen Storage Disease Type II (19) · Primary Immunodeficiency Diseases (17) · Thalassemia (17) · beta-Thalassemia (17) · Hemophilia B (15) · Fabry Disease (13) · Turner Syndrome (13) · Hyperlipoproteinemia Type II (12)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (804) · Nutritional and Metabolic Diseases (217) · Immune System Diseases (205) · Metabolic Diseases (205) · Skin and Connective Tissue Diseases (200) · Hemic and Lymphatic Diseases (182) · Skin Diseases (179) · Metabolism, Inborn Errors (174) · Nervous System Diseases (171) · Hematologic Diseases (170) · Skin Diseases, Genetic (161) · Hypersensitivity (147) · Hypersensitivity, Immediate (147) · Skin Diseases, Eczematous (135)
dupilumab (27) · Factor VIII (24) · pimecrolimus (21) · Methotrexate (16) · Tacrolimus (14) · GAA protein, human (12) · Sodium Chloride (12) · Allopurinol (11) · F8 protein, human (10) · Febuxostat (10) · Growth Hormone (10) · Human Growth Hormone (10) · Saline Solution (10) · agalsidase beta (10) · crisaborole (10)
Genzyme, a Sanofi Company (27) · Novartis Pharmaceuticals (26) · Pfizer (17) · Baxalta now part of Shire (13) · Sanofi (13) · Amgen (11) · Novartis (11) · CSL Behring (10) · Massachusetts General Hospital (10) · Assistance Publique - Hôpitaux de Paris (9) · Bayer (9) · University of Colorado, Denver (9) · Children's Hospital Medical Center, Cincinnati (7) · National Institute of Allergy and Infectious Diseases (NIAID) (7) · University of California, San Francisco (7)
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PMID 39356039, PMID 26026936, PMID 30237305, PMID 33735508, PMID 36625789, PMID 38700045, PMID 39807668, PMID 10100293, PMID 10518081, PMID 10599727, PMID 10599729, PMID 11057854, PMID 1135616, PMID 11383973, PMID 12050336, PMID 12466334, PMID 12629094, PMID 12791627, PMID 12804435, PMID 14523139, PMID 14717616, PMID 14719181, PMID 14724301, PMID 15319624, PMID 15500369, PMID 1550069, PMID 15645403, PMID 15900109, PMID 16123520, PMID 16273116, PMID 1640190, PMID 16627012, PMID 16680006, PMID 16737942, PMID 16829550, PMID 17006758, PMID 17135281, PMID 17145250, PMID 17159456, PMID 17179052, PMID 17280537, PMID 17296823, PMID 17296824, PMID 17383291, PMID 17459549, PMID 17636190, PMID 17767471, PMID 18226126, PMID 18298856, PMID 18307999
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