Raredr

Lysosomal Storage Disorders

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.
Alexion announced it will stop developing SBC-103 for the treatment of Sanfilippo type B [mucopolysaccharidosis (MPS) IIIB].
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.
48-year-old Calgary resident Darren Bidulka is grateful that he no longer has to do the biweekly infusions
Some interesting data was presented at WORLDSymposium from the Gaucher Outcome Survey (GOS), an international registry for patients with a confirmed diagnosis of Gaucher disease.
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.
A study was preformed to assess a fabry patients' depression after telecounseling.
Erika Thiel of GeneSpotlight talks about her rare disease - Mucopolysaccharidosis (MPS) 1 - and the limitations of the currently approved enzyme replacement therapy [Aldurazyme (laronidase)].
Cerdelga (eliglustat) is the most recent orphan drug to be approved for treating Gaucher disease type 1 but unlike the other treatments, this one take be taken orally. So is it as good as the more traditional enzyme replacement therapies in the long run?
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