GNE myopathy Phase III clinical trial completes patient enrollment

Ultragenyx Pharmaceutical Inc. recently announced that the Phase III clinical trial to evaluate aceneuramic acid extended release (Ace-ER) in treating GNE myopathy has completed its patient enrollment. 

The 48-week study enrolled 89 patients and will assess the effectiveness and safety of six grams of Ace-ER daily versus a placebo. The patients will be tested on their upper and lower extremity strength and mobility.

“Patients with GNE myopathy typically are diagnosed in their 20s and 30s, are wheelchair-bound within 10 to 20  years of diagnosis, and continue to suffer muscle atrophy as they lose strength in the upper-extremity muscles as well," Ultragenyx President and CEO Dr. Emil D. Kakkis said. "Our pivotal Phase 3 study is intended to evaluate the effect of Ace-ER on this devastating disease.”

The rare, progressive, neuromuscular disease affects the body's ability to produce sialic acid. The genetic defect results in the muscles wasting away and leads to a slow loss of muscle function, particularly in the upper extremities. Generally, patients are wheelchair bound in 10 to 20 years. Worldwide, approximately 2,000 individuals have been diagnosed with the disease. 

Ace-ER has been tested in Phase I and Phase II trials as a substrate replacement therapy. Based on the Phase II trial Ultragenyx is seeking conditional marketing authorization from the European Medicines Agency (EMA). If the Committee for Medicinal Products for Human Use (CHMP) approves the application, the Phase III trial will confirm the decision. If the CHMP does not approve it, the Phase III trial will be mandatory for final approval.  

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Ultragenyx Pharmaceutical Inc.