30. 遠位型ミオパチー
［臨床試験数：13，薬物数：16（DrugBank：3），標的遺伝子数：1，標的パスウェイ数：1］
Searched query = "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | EUCTR2016-000360-42-BG (EUCTR) | 26/04/2017 | 22/02/2017 | A study to see if aceneuramic acid is safe and effective in treating people with Hereditary Inclusion Body Myopathy (HIBM), a rare muscle disease. | A Phase 3b Open-label Extension Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients with GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) | GNE Myopathy, also known as Hereditary Inclusion Body Myopathy(HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka'sdisease, or quadriceps sparing myopathy (QSM) MedDRA version: 19.1;Level: LLT;Classification code 10075048;Term: Hereditary inclusion body myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.1;Level: PT;Classification code 10077945;Term: GNE myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05] | Product Name: INN: aceneuramic acid; Common Name: Sialic Acid Product Code: UX001 INN or Proposed INN: ACENEURAMIC ACID Other descriptive name: sialic acid, N-acetylneuraminic acid | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 165 | Phase 3 | France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom | ||
| 2 | JPRN-UMIN000026354 | 2017/03/28 | 20/03/2017 | A Phase II/III Open-label Extension Study of NPC-09 (N-acetylneuraminic acid) in Patients with GNE Myopathy (GNEM) | A Phase II/III Open-label Extension Study of NPC-09 (N-acetylneuraminic acid) in Patients with GNE Myopathy (GNEM) - A Phase II/III Open-label Extension Study of NPC-09 (N-acetylneuraminic acid) in Patients with GNE Myopathy (GNEM) | GNE myopathy (Distal myopathy with rimmed vacuoles (DMRV), hereditary inclusion body myopathy (hIBM) or Nonaka disease) | SA-ER 2g 3 times oral dosing a day for 48 consecutive weeks | Tohoku University Hospital, Department of Neurology | Nobelpharma Co., Ltd. | Complete: follow-up complete | 20years-old | 50years-old | Male and Female | 20 | Phase 2;Phase 3 | Japan |
| 3 | EUCTR2015-004553-41-BG (EUCTR) | 05/01/2017 | 14/09/2016 | A study to see if Aceneuramic Acid is safe in treating people with GNE Myopathy (GNEM) patients (a rare muscle disease also known as Hereditary Inclusion Body Myopathy (HIBM)) with severe ambulatory impairment. | A Phase 2 Open-label study to Evaluate the Safety of Aceneuramic Acid ExtendedRelease (Ace-ER) Tablets in GNE Myopathy (GNEM) (also known as HereditaryInclusion Body Myopathy (HIBM)) patients with Severe Ambulatory Impairment | GNE Myopathy, also known as Hereditary Inclusion Body Myopathy (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka’s disease, or quadriceps sparing myopathy (QSM) MedDRA version: 20.0;Level: LLT;Classification code 10075048;Term: Hereditary inclusion body myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10077945;Term: GNE myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05] | Product Name: Sialic acid (INN: aceneuramic acid) Product Code: UX001 INN or Proposed INN: ACENEURAMIC ACID Other descriptive name: sialic acid; N-acetylneuraminic acid | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 45 | Phase 2 | United States;Canada;Bulgaria | ||
| 4 | JPRN-UMIN000020683 | 2016/02/01 | 25/01/2016 | A Phase II/III Study of NPC-09 (N-acetylneuraminic acid) in Patients with GNE Myopathy (GNEM) | GNE myopathy (Distal myopathy with rimmed vacuoles (DMRV), hereditary inclusion body myopathy (hIBM) or Nonaka disease) | SA-ER 2g 3 times oral dosing a day for 48 consecutive weeks placebo 3 times oral dosing a day for 48 consecutive weeks | Tohoku University Hospital, Department of Neurology | Nobelpharma Co., Ltd. | Complete: follow-up complete | 20years-old | 50years-old | Male and Female | 20 | Phase 2;Phase 3 | Japan | |
| 5 | NCT01236898 (ClinicalTrials.gov) | November 2010 | 8/11/2010 | Pharmacokinetic Study on N-acetylneuraminic Acid | Pharmacokinetic Study on N-acetylneuraminic Acid in Patients With Distal Myopathy With Rimmed Vacuoles (DMRV) - Hereditary Inclusion Body Myopathy (hIBM) | Nonaka Myopathy;Hereditary Inclusion Body Myopathy | Drug: NPC-09 | Tohoku University | NULL | Completed | 20 Years | 40 Years | Both | 6 | Phase 1 | Japan |