Clinical Trial: An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid (ER Tablets + IR Capsules) in Patients With GNE Myopathy

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With

Brief Summary: GNE myopathy or hereditary inclusion body myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA). The purpose of the study is to measure long term safety and the effects of Sialic Acid-Extended Release (SA-ER) tablets and Sialic Acid-Immediate Release (SA-IR) capsules.

Detailed Summary: GNE myopathy or hereditary inclusion body myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA). Substrate replacement therapy 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 (Malicdan et al., 2009). 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 Sialic Acid-Extended Release [SA-ER]), given SA's short half-life. Following a Phase 1 study to establish the pharmacokinetics for SA-ER and an ongoing Phase 2 study to assess the pharmacodynamic effect of restoring sialylation of muscle by treatment over 48 weeks, Ultragenyx is conducting this study to evaluate the long term safety and efficacy of an increased dosed of SA-ER combined with Sialic Acid-Immediate Release (SA-IR) capsules as treatment, for up to 36 additional months.
Sponsor: Ultragenyx Pharmaceutical Inc

Current Primary Outcome: Assess long-term safety of SA-ER and SA-IR in HIBM subjects [ Time Frame: approximately 3 years ]

Original Primary Outcome: Assess long-term safety of 6000 mg/day SA-ER in HIBM subjects [ Time Frame: approximately 3 years ]

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Ultragenyx Pharmaceutical Inc

Dates:
Date Received: April 10, 2013
Date Started: June 2013
Date Completion:
Last Updated: April 8, 2016
Last Verified: April 2016