388 completed, 95 recruiting, 81 unknown, 52 terminated. 183 Phase 2, 120 Phase 1, 117 Not applicable, 82 Phase 3, 43 Phase 4.
Follow Carbohydrate Metabolism, Inborn Errors: new trials by email Literature Review of Carbohydrate Metabolism, Inborn Errors trials Research Report on Carbohydrate 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 |
|---|---|---|---|---|---|---|
| A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP) garetosmab - Fibrodysplasia Ossificans Progressiva, FOP | Phase 3 | Not yet recruiting | Regeneron Pharmaceuticals | 18 | 2027-02-02 | 2026-10-20 |
| Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB rAAV9-CMV-hNAGLUop - Sanfilippo Syndrome (MPS III) | Phase 1 / Phase 2 | Not yet recruiting | NeuroGT | 9 | 2027-01-18 | 2026-09-14 |
| Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B) Tralesinidase alfa (TA) - MPS IIIB | Phase 3 | Not yet recruiting | Spruce Biosciences | 14 | 2026-12-01 | 2026-09-21 |
| An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD) S-606001, ERT - Pompe Disease | Phase 2 | Not yet recruiting | Shionogi | 60 | 2026-11-02 | 2026-10-13 |
| MPS IIIA Disease Monitoring Program No Intervention - MPS IIIA, Sanfilippo Syndrome | Not yet recruiting | Ultragenyx Pharmaceutical Inc | 55 | 2026-11-01 | 2026-10-02 | |
| Natural History to Assess Disease in Patients With MPS IIIC Sanfilippo Syndrome Type C, Mucopolysaccharidosis (MPS) IIIC | Not yet recruiting | Phoenix Nest | 35 | 2026-11-01 | 2026-07-17 | |
| Effects of the Carbohydrate Counting Method on Blood Glucose Regulation, Quality of Life, Urinary Glc4 and Other Biomarkers in Children With GSD1 Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB | Not yet recruiting | Şükrü Arman AKSOY | 8 | 2026-10-30 | 2026-10-15 | |
| MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT) Antiphospholipid (aPL)-Positive, Rheumatic Arthritis | Not yet recruiting | Axiom Bioregistry | 5000 | 2026-10-18 | 2026-10-23 | |
| A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS) TTI-0102: cysteamine-pantetheine disulfide, D-Mannitol - Leigh Syndrome | Phase 2 | Not yet recruiting | Thiogenesis Therapeutics, Inc. | 18 | 2026-10-01 | 2026-07-24 |
| A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD) S-606001 - Pompe Disease | Phase 1 | Not yet recruiting | Shionogi | 15 | 2026-09-30 | 2026-08-26 |
| Study of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1) YOLT-203, Placebo - Primary Hyperoxaluria Type 1, PH1 | Phase 2 | Recruiting | YolTech Therapeutics Co., Ltd | 36 | 2026-09-16 | 2026-10-09 |
| ATR 1072 in Participants With PRKAG2 Syndrome ATR 1072 - Cardiac Glycogenosis, Cardiomyopathy | Phase 1 / Phase 2 | Recruiting | Atrium Therapeutics | 37 | 2026-09-14 | 2026-09-18 |
| Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis intra-oral 3D optical impression - Osteogenesis Imperfecta, Rare Bone Disorders | Not applicable | Not yet recruiting | University Hospital, Bordeaux | 240 | 2026-09-01 | 2026-06-24 |
| Diazoxide in the Treatment of Type 1 Glycogenosis Glycogen Storage Disease Type I | Not yet recruiting | Central Hospital, Nancy, France | 15 | 2026-08-30 | 2026-07-31 | |
| Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease Lactate Meter, Accu Chek - Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I | Recruiting | Connecticut Children's Medical Center | 10 | 2026-08-01 | 2026-06-01 | |
| Phase I Exploratory Study of YOLT-203 in Patients With Primary Hyperoxaluria Type 1 (PH1) YOLT-203 - Primary Hyperoxaluria Type 1, PH1 | Phase 1 | Recruiting | YolTech Therapeutics Co., Ltd | 9 | 2026-08-01 | 2026-08-20 |
| High-Dose Vitamin C in G6PDA and Pyruvate Kinase Deficiency: A Safety Study Vitamin C - Pyruvate Kinase Deficiency, Glucose 6 Phosphate Dehydrogenase Deficiency | Phase 1 | Not yet recruiting | University of Utah | 3 | 2026-07-15 | 2026-05-28 |
| Milk for Diabetes Prevention Lactose-Containing Milk, Lactose-Free Milk - Lactose Intolerance, Lactose Intolerant | Not applicable | Recruiting | Albert Einstein College of Medicine | 40 | 2026-05-15 | 2026-05-26 |
| A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease DNL952 - Late-onset Pompe Disease | Phase 1 | Recruiting | Denali Therapeutics Inc. | 32 | 2026-05-12 | 2026-08-17 |
| Assessing the Safety and Tolerability of NMN in DHDDS-CDG Nicotinamide Mononucleotide (NMN) Nucleosidase - DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG | Phase 1 | Recruiting | Eva Morava-Kozicz | 8 | 2026-05-08 | 2026-06-22 |
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Glycogen Storage Disease Type II (147) · Mucopolysaccharidosis IV (101) · Mucopolysaccharidosis II (77) · Mucopolysaccharidosis I (74) · Mucopolysaccharidosis III (58) · Lysosomal Storage Diseases (57) · Mucopolysaccharidoses (57) · Lactose Intolerance (52) · Hyperoxaluria, Primary (42) · Glucosephosphate Dehydrogenase Deficiency (41) · Sudden Infant Death (37) · Mucopolysaccharidosis VI (36) · Glycogen Storage Disease (35) · Genetic Diseases, Inborn (29) · alpha-Mannosidosis (24)
Nutritional and Metabolic Diseases (735) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (733) · Metabolic Diseases (716) · Metabolism, Inborn Errors (712) · Genetic Diseases, Inborn (706) · Lysosomal Storage Diseases (428) · Nervous System Diseases (332) · Skin and Connective Tissue Diseases (319) · Connective Tissue Diseases (316) · Mucinoses (309) · Mucopolysaccharidoses (254) · Central Nervous System Diseases (246) · Brain Diseases (242) · Brain Diseases, Metabolic (236)
GAA protein, human (36) · Iduronidase (18) · idursulfase (15) · GALNS protein, human (11) · Primaquine (9) · Stem Cell Transplantation (8) · miglustat (7) · triheptanoin (7) · Alemtuzumab (6) · infigratinib (6) · lumasiran (6) · vestronidase alfa (6) · Cyclophosphamide (5) · Lactase (5) · Rituximab (5)
Genzyme, a Sanofi Company (43) · BioMarin Pharmaceutical (20) · Shire (20) · Duke University (19) · Ultragenyx Pharmaceutical Inc (17) · Masonic Cancer Center, University of Minnesota (13) · Mayo Clinic (13) · JCR Pharmaceuticals Co., Ltd. (12) · University of Florida (11) · CENTOGENE GmbH Rostock (10) · National Taiwan University Hospital (10) · Amicus Therapeutics (9) · Copenhagen University Hospital, Rigshospitalet (9) · QED Therapeutics, a BridgeBio company (8) · REGENXBIO Inc. (8)
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Paul Orchard, MD (8) · Peter Bauer, Prof. (8) · Priya Kishnani, MD (6) · Celeste Decker, MD (4) · Jens Fogh (4) · Ozlem Goker-Alpan, MD (4) · Paul Harmatz, MD (4) · Allan M Lund, MD (3) · Athanasios Z Jamurtas, PhD (3) · Barry J Byrne, MD, PhD (3) · Debra Lounsbury (3)
PMID 33874971, PMID 19775921, PMID 40601241, PMID 21586746, PMID 30467742, PMID 35709957, PMID 37415957, PMID 40193200, PMID 41631150, PMID 20393176, PMID 21637107, PMID 22547151, PMID 25421091, PMID 26048034, PMID 29526614, PMID 29976218, PMID 31303277, PMID 32063397, PMID 32884151, PMID 34353864, PMID 35342457, PMID 35835061, PMID 35961250, PMID 36299240, PMID 37915038, PMID 38332115, PMID 40670924, PMID 10858991, PMID 11310367, PMID 11423928, PMID 11820919, PMID 12122118, PMID 12210323, PMID 1281472, PMID 15293280, PMID 15324318, PMID 15781190, PMID 1580445, PMID 15961949, PMID 16049943, PMID 162198, PMID 16267188, PMID 16602102, PMID 16763895, PMID 16763896, PMID 16849828, PMID 16900450, PMID 17316019, PMID 17320993, PMID 17584774
2023 (10), 2019 (9), U54NS065768 (8), 2015 (7), 2014 (4), 2016 (4), 2018 (4), U54DK083908 (4), 2017 (3), 2025 (2), R01DK073354 (2), U54NS078059 (2), U54NS115198 (2), 1RC1DK086182 (1), 1UB1NS122644-01A1 (1)