According to a story from Market Watch, the biopharmaceutical company Ultragenyx Pharmaceutical, Inc. recently announced that it was given Orphan Drug designation from both the US Food and Drug Administration and the European Medicines Agency (EMA) for its investigational therapy UX053. This medicine is being developed as a treatment for glycogen storage disease type III. As of now, the company is making plans to enroll patients in a phase 1/2 clinical trial later this year that will evaluate the experimental treatment.
About Glycogen Storage Disease Type III
Glycogen storage disease type III is a rare metabolic disorder which causes a deficiency in glycogen debranching enzymes. It is also called Cori’s disease or Forbes disease. It is inherited in a recessive pattern and is caused by mutations in the AGL gene. The signs and symptoms of this illness become apparent early in life. Early symptoms include failure to thrive, elevated liver enzymes, elevated fat in the blood, and low blood sugar. Seizures may occur and enlarged liver may be noticeable later in childhood; this may recede in some patients or lead to liver failure in others. Other symptoms include hypotonia, cardiomyopathy, susceptibility to infections, short stature, and nosebleeds. There is no cure or approved treatment; management may include glucose supplement, a high protein diet, vitamin D supplement, and liver transplant. To learn more about glycogen storage disease type III, click here.
About Orphan Drug Designation
Orphan Drug designation plays a similar role in both the US and EU and is generally reserved for therapies that are being developed to treat conditions that are regarded as rare. To qualify, the drug must either fulfill a currently unmet medical need or have potential advantages in efficacy or safety over currently available treatment options. In the US, recipients of Orphan Drug designation enjoy several benefits such as the waiving of certain fees, tax breaks, and a seven-year period of market exclusivity if the drug is approved. In the EU, benefits include fee waivers, protocol assistance, and a market exclusivity period lasting ten years.