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)


Status: Terminated
Study Identifier: NCT02736188 2016-000360-42
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: Aceneuramic Acid Extended-Release Tablets
(Ace-ER)
Administration: Oral
Eligibility: Have completed UX001-CL202, UX001-CL301 or UX001-CL203 studies
Study Type: Interventional Phase 3
Industry / Institution(s):
Ultragenyx Pharmaceutical Inc
Locations:
Europe
United States
Canada
Israel

More Details Here

A 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


Status: Terminated
Study Identifier: NCT02731690 2015-004553-41
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: Aceneuramic Acid Extended-Release tablets
(Ace-ER)
Administration: Oral
Eligibility: Older than 18 years with documented diagnosis
Study Type: Interventional Phase 2
Industry / Institution(s):
Ultragenyx Pharmaceutical Inc
Locations:
United States
Canada
Bulgaria
Contacts:
_

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Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation


Status: Terminated
Study Identifier: NCT02511041
Disorders / CDG Type(s): PGM3-CDG
Therapeutic approach:
Drugs: N-Acetylglucosamine (GlcNAc) / Uridine
Administration: Oral
Eligibility: PGM3-CDG patients older than 2 years with immunologic abnormalities and altered glycosylation detected using clinical tests evaluating N- and O-linked glycan by mass spectroscopy
Study Type: Interventional Phase 1
Industry / Institution(s):
National Institutes of Health Clinical Center
Locations:
MD United States
Contacts:
Jonathan J Lyons, M.D.

https://www.clinicaltrials.gov/ct2/show/NCT02511041?term=NCT02511041&draw=2&ran…

Phase 3 randomized, double-blind, placebo-controlled study to evaluate Sialic Acid in patients with GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)


Status: Completed
Study Identifier: NCT02377921
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
"Drug: Sialic Acid Tablets (UX001)
Administration: Oral"
Eligibility: Aged 18 to 55 years, inclusive with documented diagnosis, able to walk a minimum of 200 meters during the six-meter walk test (6MWT) at Screening without the use of assistive devices
Study Type: "Interventional Phase 3"
Industry / Institution(s):
Ultragenyx Pharmaceutical Inc
Locations:
Europe
United States
Canada
Israel

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An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy


Status: Completed
Study Identifier: NCT02346461
Disorders / CDG Type(s): Nonaka myopathy, All CDGs
Therapeutic approach:
Drug: ManNac
Administration: Oral
Eligibility: GNE-CDG patients between 16-80 years with two GNE gene mutations identified
Study Type: Interventional Phase 2
Industry / Institution(s):
National Institutes of Health Clinical Center
Locations:
MD United States
Contacts:
Nuria Carrillo, M.D.

https://www.clinicaltrials.gov/ct2/results?cond=&term=NCT02346461&cntry=&state=…

Clinical, biological and NMR outcome measures study for Hereditary Inclusion Body Myopathy due to mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) (ClinBio-GNE)


Status: Completed
Study Identifier: NCT02196909
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
None
Eligibility: Older than 18 years, with confirmed diagnosis and must take part in the HIBM-PMP UX001-CL401 study
Study Type: Interventional Parallel assignment with blood and urine collection
Industry / Institution(s):
Institute of Myology
Locations:
Paris France
Contacts:
_

https://www.clinicaltrials.gov/ct2/show/NCT02196909?term=NCT02196909&draw=2&ran…

Clinical and basic investigations into known and suspected Congenital Disorders of Glycosylation


Status: Active, Recruiting
Study Identifier: NCT02089789
Disorders / CDG Type(s): All CDGs
Therapeutic approach:
None
Eligibility: People age 1-80 with CDG or suspected to have a CDG
Study Type: Observational
Industry / Institution(s):
National Institutes of Health Clinical Center
Locations:
MD United States
Contacts:
Lynne A Wolfe
C.R.N.P.
+1 (301) 443-8577
lynne.wolfe@nih.gov

https://www.clinicaltrials.gov/ct2/show/NCT02089789?term=NCT02089789&draw=2&ran…

Natural history in CCFDN and IBM syndromes


Status: Completed
Study Identifier: NCT01902940
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
None
Eligibility: Patients with all ages with clinical or genetic diagnosis
Study Type: Observational
Industry / Institution(s):
Friedrich-Baur-Institut
Ludwig-Maximilians-University of Munich
Locations:
Munich Germany
Contacts:
Maggie C Walter, MD, MA

https://www.clinicaltrials.gov/ct2/show/NCT01902940?term=NCT01902940&draw=2&ran…

An open label phase 2 extension study of higher dose Sialic Acid (ER Tablets + IR Capsules) in patients with GNE Myopathy


Status: Completed
Study Identifier: NCT01830972
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: Sialic Acid Extended Release (SA-ER)
Sialic Acid Immediate Release (SA-IR)
Administration: Oral
Eligibility: Enrollment in, and successful completion of the UX001-CL201 (NCT01517880) protocol OR (for 10 treatment naïve subjects): 1) have a confirmed diagnosis of GNE Myopathy, 2) aged 18 -65 years of age, inclusive
Study Type: Interventional Phase 2
Industry / Institution(s):
Ultragenyx Pharmaceutical Inc
Locations:
United States
Israel
Contacts:
_

https://www.clinicaltrials.gov/ct2/show/NCT01830972?term=NCT01830972&draw=2&ran…

GNE-Myopathy disease monitoring program (GNEM-DMP): a registry and prospective observational natural history study to assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)


Status: Completed
Study Identifier: NCT01784679
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
None
Eligibility: All ages with documented diagnosis
Study Type: Observational
Industry / Institution(s):
Ultragenyx Pharmaceutical Inc
Locations:
Europe
United States
Canada

More Details Here


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