Company name: Ultragenyx Pharmaceutical Inc.
Location: Novato, California.
Solution/product: Ultragenyx is developing a sialic acid replacement therapy for treatment of the rare, progressive neuromuscular disease hereditary inclusion body myopathy. The disease is caused by a deficiency in sialic acid that causes muscles to slowly waste away, which causes many patients to need a wheelchair within 10 to 15 years of disease onset. Ultragenyx’s oral drug uses an extended-release formulation of sialic acid.
A second drug in the company’s pipeline, UX-003, is an enzyme replacement therapy for the rare genetic metabolic disorder Sly syndrome, which results from a deficiency of the enzyme beta-glucoronidase. It received orphan drug designation in February.
Management team: Founder and CEO Emil Kakkis is the founder of BioMarin Pharmaceutical Inc., which saw three rare disease products approved during his tenure as CEO.
Market size: Although orphan drugs are intended to treat conditions with fewer than 200,000 patients, there’s been renewed interest in them as of late that’s included both startups and major players like GSK and Bristol-Myers Squibb. In 2011, the U.S. Food and Drug Administration approved a dozen new or reformulated products with orphan drug designation.
Competitors: Currently, treatment of HIBM is symptomatic. Researchers are working on a few different approaches to treatment including gene and stem cell therapies, but Ultragenyx appears to be the furthest along in development.