5 enrolling by invitation. 5 Phase 1, 3 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 1 | 5 | Enrolling by invitation 5 |
| Phase 2 | 3 | Enrolling by invitation 3 |
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 |
| PET Imaging With [18F]Fluselenamyl in People With Cardiac Amyloidosis [18F]Fluselenamyl (FSA) - Cardiac Amyloidosis | Phase 1 | Enrolling by invitation | Washington University School of Medicine | 50 | 2026-01-14 | 2026-08-18 |
| Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV AAV9.hMCOLN1co - Mucolipidosis Type IV | Phase 1 | Enrolling by invitation | The Children's Hospital of Zhejiang University School of Medicine | 1 | 2026-01-13 | 2026-02-10 |
| 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 |
| 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 |
Amyloid Neuropathies, Familial (1) · Aspartylglucosamidase (AGA) deficiency (1) · Aspartylglucosaminuria (1) · Canavan Disease (1) · Immunoglobulin Light-chain Amyloidosis (1) · Mucolipidoses (1) · Progeria (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (5) · Genetic Diseases, Inborn (5) · Metabolic Diseases (5) · Nutritional and Metabolic Diseases (5) · Nervous System Diseases (3) · Brain Diseases (2) · Brain Diseases, Metabolic (2) · Brain Diseases, Metabolic, Inborn (2) · Central Nervous System Diseases (2) · Heredodegenerative Disorders, Nervous System (2) · Lysosomal Storage Diseases (2) · Neurodegenerative Diseases (2) · Amyloid Neuropathies (1) · Amyloidosis (1)
Everolimus (1) · Levetiracetam (1) · Prednisone (1) · lonafarnib (1)
Boston Children's Hospital (1) · Myrtelle Inc. (1) · Rare Trait Hope (1) · The Children's Hospital of Zhejiang University School of Medicine (1) · Washington University School of Medicine (1)
United States (4) · China (1)
Monica Kleinman, M.D. (1) · Robert Lober, MD, PhD (1)