Clinical Trial: 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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: 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 S

Brief Summary: This is an open-label multi center study to evaluate the safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets for patients with GNE Myopathy.The primary objective of this Phase 2 study is to evaluate the safety of open-label 6 g/day Ace-ER in GNEM subjects with severe ambulatory impairment. The study will also assess efficacy to ensure that the full spectrum of patients with GNEM are evaluated.

Detailed Summary: GNEM (or HIBM), is a rare, severely debilitating disease of adult onset myopathy and progressive muscle weakness caused by a defect in the biosynthetic pathway for sialic acid (SA). Substrate replacement is a potential therapeutic strategy based on the success of replacing reduced SA and the resulting reduction of muscle disease in a relevant mouse model of the human disease. The primary objective of this Phase 2 study is to evaluate the safety of open-label 6 g/day Ace-ER in GNEM subjects with severe ambulatory impairment. The study will also assess efficacy to ensure that the full spectrum of patients with GNEM are evaluated.
Sponsor: Ultragenyx Pharmaceutical Inc

Current Primary Outcome: Evaluate the safety of Ace-ER in GNEM subjects with severe ambulatory impairment (frequency of adverse events (AEs) and serious adverse events (SAEs)) [ Time Frame: 48 Weeks ]

The primary endpoint of the study is the incidence and frequency of adverse events (AEs) and serious adverse events (SAEs) assessed as related to Ace-ER over the duration of the study.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Change in GNEM-FAS(GNE Myopathy Functional Activities Scale) Expanded Version scores (including domain scores) from baseline over the duration of the study [ Time Frame: 48 Weeks ]
  • Change in muscle strength in the upper extremity as measured by dynamometry over the duration of study [ Time Frame: 48 Weeks ]
  • Change in lower extremity muscle strength in the knee extensors as measured by dynamometry over the duration of the study [ Time Frame: 48 Weeks ]


Original Secondary Outcome: Same as current

Information By: Ultragenyx Pharmaceutical Inc

Dates:
Date Received: March 24, 2016
Date Started: June 2016
Date Completion: May 18, 2018
Last Updated: May 9, 2017
Last Verified: May 2017