6 enrolling by invitation. 6 Phase 3, 2 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 3 | 6 | Enrolling by invitation 6 |
| Phase 2 | 2 | Enrolling by invitation 2 |
Follow Metabolism, Inborn Errors: new trials by email Literature Review of Metabolism, Inborn Errors trials Research Report on Metabolism, Inborn Errors
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 |
|---|---|---|---|---|---|---|
| An Interventional Study of Infigratinib in Children With Hypochondroplasia infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day - Hypochondroplasia | Phase 2 / Phase 3 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 24 | 2025-04-22 | 2026-07-16 |
| A Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE) Pegtibatinase - Homocystinuria | Phase 3 | Enrolling by invitation | Travere Therapeutics, Inc. | 100 | 2024-04-30 | 2026-05-28 |
| An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007 tividenofusp alfa - Mucopolysaccharidosis II | Phase 2 / Phase 3 | Enrolling by invitation | Denali Therapeutics Inc. | 99 | 2023-09-20 | 2026-10-27 |
| An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjects JR-141 - Mucopolysaccharidosis II | Phase 3 | Enrolling by invitation | JCR Pharmaceuticals Co., Ltd. | 80 | 2023-02-22 | 2026-01-21 |
| Long-term Efficacy and Safety of OLE LIB003 in HoFH, HeFH, and High-risk CVD Patients Requiring Further LDL-C Reduction lerodalcibep - Cardiovascular Disease With Mention of Arteriosclerosis, Elevated Cholesterol | Phase 3 | Enrolling by invitation | LIB Therapeutics LLC | 2000 | 2020-12-03 | 2024-10-22 |
| Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA No Investigational Product, Adjuvant Immunomodulatory (IM) Therapy - Mucopolysaccharidosis IIIA, MPS IIIA | Phase 3 | Enrolling by invitation | Ultragenyx Pharmaceutical Inc | 41 | 2020-09-28 | 2026-07-17 |
Mucopolysaccharidosis II (2) · Bone Diseases (1) · Dwarfism (1) · Genetic Diseases, Inborn (1) · Homocystinuria (1) · Hypercholesterolemia (1) · Hyperlipoproteinemia Type II (1) · Hypochondroplasia (1) · Mucopolysaccharidosis III (1) · Mucopolysaccharidosis IV (1) · Musculoskeletal Diseases (1) · Osteochondrodysplasias (1) · Sudden Infant Death (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (6) · Metabolic Diseases (6) · Nutritional and Metabolic Diseases (6) · Connective Tissue Diseases (5) · Genetic Diseases, Inborn (5) · Skin and Connective Tissue Diseases (5) · Carbohydrate Metabolism, Inborn Errors (4) · Lysosomal Storage Diseases (4) · Mucinoses (4) · Mucopolysaccharidoses (4) · Nervous System Diseases (3) · Genetic Diseases, X-Linked (2) · Heredodegenerative Disorders, Nervous System (2) · Intellectual Disability (2)
Therapeutics (1) · infigratinib (1)
Denali Therapeutics Inc. (1) · JCR Pharmaceuticals Co., Ltd. (1) · LIB Therapeutics LLC (1) · QED Therapeutics, a BridgeBio company (1) · Travere Therapeutics, Inc. (1) · Ultragenyx Pharmaceutical Inc (1)
United States (6) · Spain (5) · France (4) · Australia (3) · Germany (3) · Italy (3) · Turkey (Türkiye) (3) · United Kingdom (3) · Argentina (2) · Belgium (2) · Brazil (2) · Canada (2) · Norway (2) · Poland (2) · Portugal (2)
David Kallend, MB BCh (1) · Michael Imperiale, MD (1)
2023 (2), 2019 (1)