Raredr

Neurology

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 a good outcome measure is different than a parent's definition.
At WORLDSymposium in San Diego, we talked with Priya Kishnani, MD, PhD about the amount of new information gained by studying patients diagnosed at birth with Pompe disease. The data is dramatically changing our understanding of Pompe disease and its management.
"He has a new lease on life and is looking at things through a different lens, in terms of what is possible"
Lauren Bailey, MS, CGC at Duke University talks about their recent study in which 5 babies were diagnosed with late-onset Pompe disease via newborn screening who began to show symptoms in the first few years of life.
Dave Esposito is the father of a daughter diagnosed with Sanfilippo syndrome, a rare lysosomal disorder that currently has no treatment or cure.
Erika Thiel of GeneSpotlight talks about her rare disease - Mucopolysaccharidosis (MPS) 1 - and the limitations of the currently approved enzyme replacement therapy [Aldurazyme (laronidase)].
Elsa Shapiro, PhD, Professor of Pediatrics at the University of Minnesota talks about a recent meeting to establish best practices for measuring cognitive outcomes in children with neurodegenerative disorders.
Key questions asked among men, women, and children with a diagnosis of Syringomyelia are the following: “What physical therapy exercises are recommended for Syringomyelia?”, and “Should physical therapy be a part of my recommended treatment?”
At WORLDSymposium, Broomfield et al performed a retrospective review of all Hunter syndrome [mucopolysaccharidosis (MPS) II] patients managed at Royal Manchester Children's Hospital, Manchester, United Kingdom since the commercial introduction of Elaprase (idursulfase).
I am guessing that the CEO of Marathon got some hate mail this weekend.
$vacMongoViewPlus$ $vAR$