30. Distal myopathy
[
8 clinical trials,
13 drugs（DrugBank:
2 drugs),
1 target gene / 1 target pathway ]
Searched query = "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Oculopharyngodistal myopathy"
The queries were searched in Public_title, Scientific_title, and Condition of the data. Export date: 11/21/2019, 11/20/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | 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 | 26/04/2017 | 5 February 2018 | 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's disease, 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 Pharmaceutical Form: Tablet INN or Proposed INN: ACENEURAMIC ACID CAS Number: 131-48-6 Current Sponsor code: UX001 Other descriptive name: sialic acid, N-acetylneuraminic acid Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 500- | Ultragenyx Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 165 | Phase 3 | France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom | |||
| 2 | EUCTR2015-004553-41-BG | 05/01/2017 | 5 February 2018 | 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 Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (also known as Hereditary Inclusion 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 Pharmaceutical Form: Tablet INN or Proposed INN: ACENEURAMIC ACID CAS Number: 131-48-6 Current Sponsor code: UX001 Other descriptive name: sialic acid; N-acetylneuraminic acid Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 500- | Ultragenyx Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 45 | Phase 2 | United States;Canada;Bulgaria | |||
| 3 | EUCTR2014-005432-33-BG | 07/06/2016 | 2 October 2017 | A study to see if sialic acid is safe and effective in treating people with Hereditary Inclusion Body Myopathy (HIBM), a rare muscle disease. | A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release 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’s disease, or quadriceps sparing myopathy (QSM) MedDRA version: 20.0 Level: LLT Classification code 10075048 Term: Hereditary inclusion body myopathy System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05] | Product Name: Sialic acid (INN: aceneuramic acid) Product Code: UX001 Pharmaceutical Form: Tablet INN or Proposed INN: ACENEURAMIC ACID CAS Number: 131-48-6 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 500- Pharmaceutical form of the placebo: Prolonged-release tablet Route of administration of the placebo: Oral use | Ultragenyx Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 89 | Phase 3 | France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom | |||
| 4 | NCT02736188 | May 2, 2016 | 26 November 2018 | Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy | 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) | Hereditary Inclusion Body Myopathy;Distal Myopathy With Rimmed Vacuoles;Distal Myopathy, Nonaka Type;GNE Myopathy;Quadriceps Sparing Myopathy | Drug: Aceneuramic Acid Extended-Release Tablets | Ultragenyx Pharmaceutical Inc | Not recruiting | 18 Years | N/A | All | 143 | Phase 3 | United States;Bulgaria;Canada;France;Israel;Italy;United Kingdom | |
| 5 | NCT02731690 | April 29, 2016 | 26 November 2018 | 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 | A Phase 2 Open-label Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment | Hereditary Inclusion Body Myopathy;Distal Myopathy With Rimmed Vacuoles;Distal Myopathy, Nonaka Type;GNE Myopathy;Quadriceps Sparing Myopathy;Inclusion Body Myopathy 2 | Drug: Aceneuramic Acid Extended-Release | Ultragenyx Pharmaceutical Inc | Not recruiting | 18 Years | N/A | All | 42 | Phase 2 | United States;Bulgaria;Canada | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT02377921 | May 27, 2015 | 16 December 2017 | Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) | A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) | Hereditary Inclusion Body Myopathy;Distal Myopathy With Rimmed Vacuoles;Distal Myopathy, Nonaka Type | Drug: Sialic Acid Tablets;Drug: Placebo Tablets | Ultragenyx Pharmaceutical Inc | Not recruiting | 18 Years | 55 Years | All | 89 | Phase 3 | United States;Bulgaria;Canada;France;Israel;Italy;United Kingdom | |
| 7 | NCT01236898 | November 2010 | 19 February 2015 | 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 | Not recruiting | 20 Years | 40 Years | Both | 6 | Phase 1 | Japan | |
| 8 | NCT00527228 | September 2003 | 14 September 2015 | Deflazacort in Dysferlinopathies | Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study | LGMD2B;Miyoshi Myopathy;Dysferlinopathy | Drug: deflazacort;Drug: placebo | Ludwig-Maximilians - University of Munich | Not recruiting | 18 Years | N/A | Both | 25 | Phase 2/Phase 3 | Germany |