Phase 3b extension study using Aceneuramic acid
Research type
Research Study
Full title
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)
IRAS ID
207061
Contact name
Rita Horvath
Contact email
Sponsor organisation
Ultragenyx Pharmaceutical Inc.
Eudract number
2016-000360-42
Clinicaltrials.gov Identifier
Clinicaltrials.gov Identifier
109,334, IND
Duration of Study in the UK
3 years, 8 months, 29 days
Research summary
GNEM (or HIBM), is a severe, progressive myopathy 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 missing SA and reducing muscle disease in a relevant mouse model of the human disease. Successful use of SA replacement therapy in humans is believed to depend upon providing steady, long-term exposure to the compound in an extended-release form (such as Ace-ER), given SA’s short half-life. A Phase 2, placebo-controlled study evaluating Ace-ER at 2 doses for 48 weeks (UX001-CL201) found that the higher dose of 6 g/day Ace-ER stabilized a composite of upper extremity muscle strength (UEC score) compared with placebo or the lower 3 g/day dose; this finding was supported by improvements in functional outcome on the GNE Myopathy Functional Activities Scale (GNEM-FAS). This Phase 3b extension study will assess the long-term safety of Ace-ER in patients who participated in and completed the UX001-CL301 or UX001-CL203 studies; in addition, efficacy of 6 g/day Ace-ER will be further evaluated in both populations of patients, those able to walk ≥200 m in the 6-minute walk test (6MWT) (roll over subjects from UX001-CL301) and GNEM patients with ambulatory impairment (roll over subjects from UX001-CL203).
REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
16/NE/0189
Date of REC Opinion
2 Aug 2016
REC opinion
Further Information Favourable Opinion