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
A phase 3 trial for MET-overexpressing hepatocellular carcinoma (HCC) failed to reach its endpoint.
Hannah is a young patient battling gigantic axonal neuropathy (GAN).
A Phase 2 clinical trial showed that weekly GH can be as good as daily GH.
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.