30. Distal myopathy Clinical trials / Disease details
Clinical trials : 15 / Drugs : 17 - (DrugBank : 3) / Drug target gene : 1 - Drug target pathway : 1
| 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 | JPRN-jRCT2021200030 | 08/02/2021 | 07/12/2020 | Efficacy confirmation study of NPC-09 | Efficacy confirmation study of NPC-09 - NPC-09-1 | Distal myopathy with rimmed vacuoles (DMRV), hereditary inclusion body myopathy (hIBM) | Oral administration of NPC-09 (Aceneuramic acid) for 48 weeks as compared with placebo | Suzuki Ryoichi | NULL | Not Recruiting | >= 20age old | <= 50age old | Both | 10 | Phase 3 | Japan |
| 2 | NCT04671472 (ClinicalTrials.gov) | February 8, 2021 | 30/11/2020 | Efficacy Confirmation Study of NPC-09 | Efficacy Confirmation Study of NPC-09 | GNE Myopathy;Distal Myopathy With Rimmed Vacuoles (DMRV);Hereditary Inclusion Body Myopathy (hIBM);Nonaka Disease | Drug: NPC-09;Drug: NPC-09 placebo | Nobelpharma | NULL | Active, not recruiting | 20 Years | 50 Years | All | 10 | Phase 3 | Japan |
| 3 | 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 | ||
| 4 | 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 2,3 | Japan |
| 5 | EUCTR2016-000360-42-IT (EUCTR) | 06/02/2017 | 07/02/2018 | 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). - A study to see if aceneuramic acid is safe and effective in treating people with Hereditary Inclusio | GNE Myopathy, also known as Hereditary Inclusion Body Myopatha\y (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka's disease, or quadriceps sparing myopathy (QSM) MedDRA version: 20.0;Level: PT;Classification code 10077945;Term: GNE myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: LLT;Classification code 10075048;Term: Hereditary inclusion body myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05] | Product Name: Aceneuramic Acid; Common Name: Sialic Acid Product Code: UX001 | ULTRAGENYX PHARMACEUTICAL INC. | NULL | Not Recruiting | Female: yes Male: yes | 110 | Phase 3 | France;Canada;Israel;Bulgaria;United Kingdom;Italy | ||
| 6 | 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 | ||
| 7 | EUCTR2016-000360-42-GB (EUCTR) | 02/08/2016 | 19/05/2016 | 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: 20.0;Level: LLT;Classification code 10075048;Term: Hereditary inclusion body myopathy;System Organ Class: 100000167584 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: INN: aceneuramic acid; Common Name: Sialic Acid Product Code: UX001 INN or Proposed INN: ACENEURAMIC ACID | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 165 | Phase 3 | France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom | ||
| 8 | EUCTR2014-005432-33-BG (EUCTR) | 07/06/2016 | 20/04/2016 | 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 INN or Proposed INN: ACENEURAMIC ACID | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 89 | Phase 3 | France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom | ||
| 9 | NCT02736188 (ClinicalTrials.gov) | May 2, 2016 | 4/4/2016 | 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) | 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 | NULL | Terminated | 18 Years | N/A | All | 143 | Phase 3 | United States;Bulgaria;Canada;France;Israel;Italy;United Kingdom |
| 10 | NCT02731690 (ClinicalTrials.gov) | April 29, 2016 | 24/3/2016 | 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 | NULL | Terminated | 18 Years | N/A | All | 42 | Phase 2 | United States;Bulgaria;Canada |
| 11 | 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 2,3 | Japan | |
| 12 | EUCTR2014-005432-33-IT (EUCTR) | 16/12/2015 | 19/01/2021 | not available | 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) - not applicable | 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: Acido Sialico - Sialic acid (INN: aceneuramic acid) Product Code: UX001 | ULTRAGENYX PHARMACEUTICAL INC. | NULL | Not Recruiting | Female: yes Male: yes | 89 | Phase 3 | France;United States;Canada;Bulgaria;Israel;United Kingdom;Italy | ||
| 13 | NCT02377921 (ClinicalTrials.gov) | May 20, 2015 | 27/2/2015 | 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) | 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;GNE Myopathy | Drug: aceneuramic acid extended-release (Ace-ER);Drug: Placebo | Ultragenyx Pharmaceutical Inc | NULL | Completed | 18 Years | 55 Years | All | 89 | Phase 3 | United States;Bulgaria;Canada;France;Israel;Italy;United Kingdom |
| 14 | 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 |
| 15 | NCT00527228 (ClinicalTrials.gov) | September 2003 | 6/9/2007 | 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 | NULL | Completed | 18 Years | N/A | Both | 25 | Phase 2/Phase 3 | Germany |