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 ]
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