13 completed, 2 terminated, 1 active not recruiting, 1 recruiting. 6 Phase 2, 5 Phase 1, 3 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 6 | Completed 3, Active not recruiting 1, Recruiting 1, Terminated 1 |
| Phase 1 | 5 | Completed 4, Recruiting 1 |
| Phase 3 | 3 | Completed 2, Terminated 1 |
Follow Distal myopathy, Nonaka type: new trials by email Literature Review of Distal myopathy, Nonaka type trials Research Report on Distal myopathy, Nonaka type
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 |
|---|---|---|---|---|---|---|
| First-in-human Study of UX016 in GNEM UX016, Placebo - GNE Myopathy | Phase 1 / Phase 2 | Recruiting | Ultragenyx Pharmaceutical Inc | 24 | 2026-10-01 | 2026-10-13 |
| Multi-Center Study of ManNAc for GNE Myopathy ManNAc, Placebo - GNE Myopathy | Phase 2 | Active not recruiting | Leadiant Biosciences, Inc. | 54 | 2022-04-05 | 2025-06-13 |
| Efficacy Confirmation Study of NPC-09 NPC-09, NPC-09 placebo - GNE Myopathy, Distal Myopathy With Rimmed Vacuoles (DMRV) | Phase 3 | Completed | Nobelpharma | 14 | 2021-02-08 | 2022-05-16 |
| Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Aceneuramic Acid Extended-Release Tablets - Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles | Phase 3 | Terminated | Ultragenyx Pharmaceutical Inc | 143 | 2016-05-02 | 2023-03-24 |
| A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment Aceneuramic Acid Extended-Release - Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles | Phase 2 | Terminated | Ultragenyx Pharmaceutical Inc | 42 | 2016-04-29 | 2019-02-19 |
| Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) aceneuramic acid extended-release (Ace-ER), Placebo - Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles | Phase 3 | Completed | Ultragenyx Pharmaceutical Inc | 89 | 2015-05-20 | 2019-06-27 |
| An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy ManNAc - GNE Myopathy | Phase 2 | Completed | National Human Genome Research Institute (NHGRI) | 12 | 2015-02-05 | 2019-04-16 |
| International GNE Myopathy Patient Registry Patient Registry - GNE Myopathy, Hereditary Inclusion Body Myopathy | Completed | Newcastle University | 430 | 2014-03-01 | 2026-08-17 | |
| An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy SA-ER 500 mg, SA-IR 500 mg - GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM) | Phase 2 | Completed | Ultragenyx Pharmaceutical Inc | 59 | 2013-06-04 | 2018-04-11 |
| Natural History in CCFDN and IBM Syndromes Natural History - Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive | Completed | Ludwig-Maximilians - University of Munich | 350 | 2013-06-01 | 2015-09-01 | |
| GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Hereditary Inclusion Body Myopathy, GNE Myopathy | Completed | Ultragenyx Pharmaceutical Inc | 319 | 2013-04-05 | 2018-04-27 | |
| Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) ManNAc - Hereditary Inclusion Body Myopathy (HIBM), GNE Myopathy | Phase 1 | Completed | National Human Genome Research Institute (NHGRI) | 26 | 2012-09-11 | 2017-10-19 |
| A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Sialic Acid Extended Release (SA-ER), Placebo - GNE Myopathy, Hereditary Inclusion Body Myopathy | Phase 2 | Completed | Ultragenyx Pharmaceutical Inc | 46 | 2012-05-01 | 2016-06-16 |
| A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases GNE Myopathy, GNE Related Diseases | Completed | National Human Genome Research Institute (NHGRI) | 78 | 2011-09-14 | 2026-09-28 | |
| Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Sialic Acid Extended Release (SA-ER) Tablets, Sialic Acid Extended Release (SA-ER) Tables - Hereditary Inclusion Body Myopathy (HIBM) | Phase 1 | Completed | Ultragenyx Pharmaceutical Inc | 26 | 2011-07-01 | 2012-05-21 |
| Pharmacokinetic Study on N-acetylneuraminic Acid NPC-09 - Nonaka Myopathy, Hereditary Inclusion Body Myopathy | Phase 1 | Completed | Tohoku University | 6 | 2010-11-01 | 2011-09-08 |
| Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Immune Globulin - Hereditary Inclusion Body Myopathy | Phase 1 | Completed | National Human Genome Research Institute (NHGRI) | 4 | 2005-09-16 | 2019-12-04 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy (1) · Distal Myopathies (1) · Inclusion body myopathy, autosomal dominant (1) · Muscular Dystrophies (1) · Myositis, Inclusion Body (1) · Neuromuscular Diseases (1) · Rare Diseases (1)
Muscular Diseases (2) · Musculoskeletal Diseases (2) · Nervous System Diseases (2) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (1) · Disease Attributes (1) · Genetic Diseases, Inborn (1) · Muscular Disorders, Atrophic (1) · Myositis (1) · Neuromuscular Diseases (1) · Pathologic Processes (1) · Pathological Conditions, Signs and Symptoms (1)
N-acetylmannosamine (3) · Immunoglobulins (1) · Tablets (1)
Ultragenyx Pharmaceutical Inc (8) · National Human Genome Research Institute (NHGRI) (4) · Leadiant Biosciences, Inc. (1) · Ludwig-Maximilians - University of Munich (1) · Newcastle University (1) · Nobelpharma (1) · Tohoku University (1)
United States (13) · Bulgaria (4) · Canada (4) · Israel (4) · United Kingdom (4) · France (3) · Italy (2) · Japan (2) · Germany (1)
William A Gahl, M.D. (2) · Alan Pestronk, MD (1) · Anthony A. Amato, MD (1) · Francis Rossignol, MD (1) · Heather Lau, MD (1) · Maggie C Walter, MD, MA (1) · Masashi Aoki (1) · Nuria Carrillo, M.D. (1) · Nuria Carrillo-Carrasco, M.D. (1) · Perry Shieh, MD (1) · Volker Straub, MD, PhD (1) · Yoseph Caraco, MD (1)
PMID 33893973, PMID 31036580, PMID 33219145, PMID 33874971, PMID 34257421, PMID 37568154
U01AR070498 (1)