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.

Search in Page e.g. "Phase 3", "Not recruiting", "Japan"
9 trials found
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1JPRN-jRCT2021200030
11/01/202107/12/2020Efficacy confirmation study of NPC-09Efficacy 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 placeboSuzuki RyoichiNULLPending>= 20age old<= 50age oldBoth10Phase 3Japan
2EUCTR2016-000360-42-BG
(EUCTR)
26/04/201722/02/2017A 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.NULLNot RecruitingFemale: yes
Male: yes
165Phase 3France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom
3EUCTR2016-000360-42-IT
(EUCTR)
06/02/201707/02/2018A 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.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3France;Canada;Israel;Bulgaria;United Kingdom;Italy
4EUCTR2015-004553-41-BG
(EUCTR)
05/01/201714/09/2016A 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.NULLNot RecruitingFemale: yes
Male: yes
45Phase 2United States;Canada;Bulgaria
5EUCTR2016-000360-42-GB
(EUCTR)
02/08/201619/05/2016A 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.NULLNot RecruitingFemale: yes
Male: yes
165Phase 3France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6EUCTR2014-005432-33-BG
(EUCTR)
07/06/201620/04/2016A 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.NULLNot RecruitingFemale: yes
Male: yes
89Phase 3France;United States;Canada;Israel;Bulgaria;Italy;United Kingdom
7NCT02736188
(ClinicalTrials.gov)
May 2, 20164/4/2016Study 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 MyopathyDrug: Aceneuramic Acid Extended-Release TabletsUltragenyx Pharmaceutical IncNULLTerminated18 YearsN/AAll143Phase 3United States;Bulgaria;Canada;France;Israel;Italy;United Kingdom
8NCT02731690
(ClinicalTrials.gov)
April 29, 201624/3/2016A 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 ImpairmentA 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 ImpairmentHereditary Inclusion Body Myopathy;Distal Myopathy With Rimmed Vacuoles;Distal Myopathy, Nonaka Type;GNE Myopathy;Quadriceps Sparing Myopathy;Inclusion Body Myopathy 2Drug: Aceneuramic Acid Extended-ReleaseUltragenyx Pharmaceutical IncNULLTerminated18 YearsN/AAll42Phase 2United States;Bulgaria;Canada
9NCT02377921
(ClinicalTrials.gov)
May 20, 201527/2/2015Phase 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 MyopathyDrug: aceneuramic acid extended-release (Ace-ER);Drug: PlaceboUltragenyx Pharmaceutical IncNULLCompleted18 Years55 YearsAll89Phase 3United States;Bulgaria;Canada;France;Israel;Italy;United Kingdom