Dear FDA and Pharma - Your Risk Benefit Ratio is Not My Risk Benefit Ratio
Dave Esposito, father of a child with Sanfilippo syndrome, wants the FDA and the pharmaceutical industry to know that their definition of success or a good outcome measure is different than a parent's definition.
What is Sanfilippo disease?
Children with Sanfilippo syndrome have inadequate levels of specific enzymes needed to metabolize heparan sulfate. This leads to a build up of heparan sulfate in lysosomes that in turn leads to progressive neural degeneration.
There are 4 types of Sanfilippo syndrome based on the specific enzyme that is affected.
Sanfilippo Type A: heparan N-sulfatase.
Sanfilippo Type B: alpha-N-acetylglucosaminidase.
Sanfilippo Type C: acetyl-CoAlpha-glucosaminide acetyltransferase.
Sanfilippo Type D: N-acetylglucosamine 6-sulfatase.