DDrare: Database of Drug Development for Rare Diseases

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.

Drug = ACENEURAMIC ACID; Aceneuramic Acid; Aceneuramic Acid Extended-Release; Aceneuramic Acid Extended-Release Tablets; Aceneuramic acid; Aceneuramic acid extended-release (Ace-ER); Common Name: Sialic Acid; Deflazacort; INN: aceneuramic acid; N-acetylneuraminic acid; NPC-09; SA; Sialic acid; Sialic acid (INN: aceneuramic acid); Sialic acid, N-acetylneuraminic acid; UX001

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

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

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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