11 enrolling by invitation. 11 Phase 2, 3 Phase 1, 2 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 11 | Enrolling by invitation 11 |
| Phase 1 | 3 | Enrolling by invitation 3 |
| Phase 3 | 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 |
|---|---|---|---|---|---|---|
| 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 |
| Setmelanotide to Treat Obesity in a Patient With Pseudohypoparathyroidism Type 1a (PHP1a) Setmelanotide - Pseudohypoparathyroidism Type 1a, Obesity | Phase 2 | Enrolling by invitation | Massachusetts General Hospital | 1 | 2026-07-21 | 2026-07-23 |
| Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia Infigratinib - Hypochondroplasia | Phase 2 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 135 | 2026-04-23 | 2026-08-26 |
| 124I-Evuzamitide PET/CT Imaging In Patients With Lumbar Spinal Stenosis and Carpal Tunnel Syndrome 124I-evuzamitide - Lumbar Spinal Stenosis, Carpal Tunnel Syndrome (CTS) | Phase 2 | Enrolling by invitation | University of Tennessee Graduate School of Medicine | 40 | 2025-05-22 | 2026-07-21 |
| 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 |
| Sirolimus for Leigh Syndrome Sirolimus - Leigh Syndrome | Phase 2 | Enrolling by invitation | Matthew Demczko | 15 | 2025-02-27 | 2026-03-31 |
| 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 |
| Extension Study of Infigratinib in Children With Achondroplasia (ACH) Infigratinib - Achondroplasia | Phase 2 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 325 | 2021-12-06 | 2026-10-26 |
| rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease rAAV-Olig001-ASPA, Levetiracetam, Prednisone - Canavan Disease | Phase 1 / Phase 2 | Enrolling by invitation | Myrtelle Inc. | 24 | 2021-04-01 | 2025-11-14 |
| Theophylline for Treatment of Pseudohypoparathyroidism Theophylline ER - Pseudohypoparathyroidism, Pseudohypoparathyroidism Type 1a | Phase 2 | Enrolling by invitation | Jaclyn Tamaroff | 34 | 2020-05-22 | 2026-09-02 |
| Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria Everolimus and lonafarnib - Progeria | Phase 1 / Phase 2 | Enrolling by invitation | Boston Children's Hospital | 80 | 2015-12-01 | 2026-04-02 |
Bone Diseases (3) · Genetic Diseases, Inborn (3) · Mucopolysaccharidosis IV (3) · Musculoskeletal Diseases (3) · Osteochondrodysplasias (3) · Dwarfism (2) · Hypochondroplasia (2) · Pseudohypoparathyroidism (2) · Achondroplasia (1) · Amyloid Neuropathies, Familial (1) · Amyloidosis (1) · Aspartylglucosamidase (AGA) deficiency (1) · Aspartylglucosaminuria (1) · Canavan Disease (1) · Carpal Tunnel Syndrome (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (11) · Metabolic Diseases (11) · Nutritional and Metabolic Diseases (11) · Genetic Diseases, Inborn (8) · Carbohydrate Metabolism, Inborn Errors (5) · Lysosomal Storage Diseases (5) · Connective Tissue Diseases (4) · Mucinoses (4) · Mucopolysaccharidoses (4) · Nervous System Diseases (4) · Skin and Connective Tissue Diseases (4) · Bone Diseases (3) · Bone Diseases, Developmental (3) · Heredodegenerative Disorders, Nervous System (3)
infigratinib (3) · Everolimus (1) · Levetiracetam (1) · Prednisone (1) · Sirolimus (1) · lonafarnib (1) · setmelanotide (1)
QED Therapeutics, a BridgeBio company (3) · Boston Children's Hospital (1) · Denali Therapeutics Inc. (1) · Jaclyn Tamaroff (1) · Massachusetts General Hospital (1) · Matthew Demczko (1) · Myrtelle Inc. (1) · Rare Trait Hope (1) · University of Tennessee Graduate School of Medicine (1)
United States (11) · Canada (4) · France (4) · Spain (4) · United Kingdom (4) · Australia (3) · Norway (3) · Singapore (3) · Sweden (3) · Argentina (2) · Italy (2) · Portugal (2) · Belgium (1) · Brazil (1) · Czechia (1)
Emily B. Martin, PhD (1) · Jaclyn Tamaroff, MD (1) · Matthew Demczko, MD (1) · Monica Kleinman, M.D. (1) · Robert Lober, MD, PhD (1)
2023 (1)