Dear EveryLife Foundation for Rare Diseases,
Thanks for your support of ultra-orphan diseases. I am 100% behind this effort because its result would be tangible and measurable – namely how many rare diseases are granted accelerated approval based on a biomarker. For patients and their families the wait for treatment is agonizing – it simply cannot be described.
My son has Sanfilippo – a devastating and life limiting disease with no treatment. In the complete absence of hope, almost any parent I know would prefer get access to treatment based on some evidence of efficacy. Sanfilippo is based on a single genetic defect which results in the deficiency of a particular enzyme. The lack of this enzyme results in accumulation of a well-known substance that is implicated in the pathology of the disease. It stands to reason that reduction of this accumulated material should serve as a reasonable biomarker for efficacy of treatment. Parents of affected children who do not gain access to a clinical trial should not have to wait until trial patients are shown to not die to help their kids.
http://www.kakkis.org/blogs/post/2011/11/29/Ultra-orphan-Life-saving-TReatments-Act-of-2012.aspx
