Clinical Trial: Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: A Phase 1 Study to Evaluate the Safety and Pharmacokinetics of Single and Repeat Doses of Sialic Acid Extended Release (SA-ER) Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)

Brief Summary:

Hereditary Inclusion Body Myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA), a critical component of many muscle proteins, resulting in a deficiency in SA in the muscles of HIBM patients.

The effective replacement of the missing SA substrate is theoretically simple, and, in animal models, replacement with SA showed significant restoration of sialylation biochemistry and excellent reduction in muscle disease. These data show that replacement can achieve significant clinical benefit in muscle pathology, function, and survival.


Detailed Summary:
Sponsor: Ultragenyx Pharmaceutical Inc

Current Primary Outcome: Evaluate the safety of repeated doses of Sialic Acid - Extended Release (SA-ER) tablets in patients with HIBM [ Time Frame: Each patient may participate approximately 4-6 weeks total, including 2 single dose (fast/fed) treatment periods followed by a 7-day repeat treatment period. ]

Safety will be evaluated in terms of the incidence and frequency of treatment-emergent adverse events (TEAEs), including clinically significant changes from baseline to scheduled timepoints in clinical laboratory values, vital signs, or physical and neurologic examination findings. Medical history and reported clinical symptoms, including increasing muscle weakness, fatigue, or pain.


Original Primary Outcome: Same as current

Current Secondary Outcome: Evaluate the pharmacokinetics of SA-ER after single and repeated dosing. [ Time Frame: Multiple pharmacokinetic (serum) samples will be taken during the study, at baseline, after each single dose administration, and at the final day of the 7 day repeat dose period. ]

Evaluation of the pharmacokinetics of SA-ER will include Cmax, the AUC of single doses, and steady-state levels of free, soluble sialic acid in serum after repeated dosing.


Original Secondary Outcome: Same as current

Information By: Ultragenyx Pharmaceutical Inc

Dates:
Date Received: May 20, 2011
Date Started: July 2011
Date Completion:
Last Updated: May 17, 2012
Last Verified: February 2012