Advocacy Group Helped Fund New FDA-Approved Orphan Drug

I like to say rare diseases are different. One key way is that, for orphan conditions, it’s often the patients who are driving and funding the research.

I like to say rare diseases are different. One key way is that, for orphan conditions, it’s often the patients who are driving and funding the research. A great example of this was highlighted in yesterday’s New York Times.

Natalie Stack has nephropathic cystinosis which, if left untreated, slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain. Thus it’s fatal by the first decade of life. Nephropathic cystinosis is estimated to impact 2,000 patients worldwide, including 500 in the U.S. and 800 in Europe.

Activated by a rare disease diagnosis
Similar to many other rare disease caregivers, Natalie’s parents, Nancy and Geoffrey, took action and started the Cystinosis Research Foundation. Their mission is “to support bench and clinical research that is focused on developing improved treatments and a cure for cystinosis.” The organization funded the research that led to Raptor Pharmaceutical Corporation’s approval yesterday of the therapy Procysbi. This story echoes others, including the evolution of the cystic fibrosis drug Kalydeco.

The article also mentions the increasing numbers of orphan drugs, which is a wonderful advancement, but it is putting an increased financial burden on insurance companies and governments. To learn more, read Doug Paul’s informative article, Is Rare Disease Pricing Sustainable?

Do you have any rare disease stories like this to share?