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].
A Phase 3b trial assessing agalsidase beta in pediatric Fabry disease male patients shows encouraging results.
A Phase II study testing savolitinib in locally advanced or metastatic pulmonary sarcomatoid carcinoma (PSC) has begun in China.
Garrett Sickels, former Penn State University football player has started a campaign to raise funds for rare disease research while participating in the 2017 NFL Combine.
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"
Hartmann Wellhoefer, MD, head of medical affairs at Shire talks about the company's recent data for Hunter syndrome, Gaucher disease, Fabry disease, and hereditary angioedema (HAE).
In an interview with Marielle, a parent of a child with MPSII (Hunter Syndrome) she discusses the other expenses some might not be aware of for caring for a child with a rare disease.
48-year-old Calgary resident Darren Bidulka is grateful that he no longer has to do the biweekly infusions