UX001 is an extended release formulation of sialic acid intended as a substrate replacement therapy for HIBM which is caused due to sialic acid deficiency.
The company initiated the first pharmacokinetic and safety trial of UX001 in humans in August 2011.
The data is expected to release later this year.
Ultragenyx CEO Emil D Kakkis said the FDA’s decision to grant UX001 orphan drug designation is an important milestone for the HIBM clinical program and underscores the urgency of the need for a safe and effective treatment for this rare and debilitating neuromuscular disease.