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Dr. Urano receives Medscape’s Readers’ Picks: Rising Stars of Healthcare Research

Fumihiko Urano, MD, PhD

Dr. Urano is the director of the Wolfram Syndrome International Registry and Clinical Study at Washington University.

Wolfram syndrome is a rare genetic disease that affects about one in every 500,000 people worldwide. Right now there is no cure or specific drug therapies to slow the progression of Wolfram syndrome. In early childhood, children with Wolfram syndrome first develop insulin-dependent diabetes. Often families do not even know that they’re child has Wolfram syndrome. Since there are no cures or drug therapies for Wolfram syndrome at this time, as many as 60% of Wolfram patients die before the age of 30.

Wolfram syndrome is a condition that affects many of the body’s systems. People with Wolfram syndrome have high blood sugar levels resulting from a shortage of insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves (optic atrophy). Often they have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear, urinary tract problems, reduced amounts of testosterone in males (hypogonadism), or neurological or psychiatric disorders.

In July 2016, Dr. Urano launched the first clinical trial for Wolfram syndrome. This clinical trial is assessing the safety of dantrolene sodium in patients with Wolfram syndrome. Dantrolene sodium is an FDA-approved drug utilized for the treatment of muscle stiffness. Dr. Urano stated, “Nobody has ever tested dantrolene in patients with Wolfram syndrome, so our first and most important objective is to make sure it’s safe. I am very hopeful, however. The major question that I get from every patient I see is, ‘Is there any treatment?’ And until now, I’ve had to say no. With any luck, perhaps this study can help change that.”

Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome