Raredr

Lysosomal Storage Disorders

Europe Review Board Gives Thumbs Up to BioMarin's Batten Disease Drug
Brineura (cerliponase alfa) is an enzyme replacement therapy that in just a few short years has shown itself to be an effective treatment for children with CLN2 disease.
Laura Case, physical therapist at Duke University Medical Center reminds persons with neuromuscular disorders that there are numerous technologies available to help disabled persons lead a full life.
David Hamlin describes the origins of the United Pompe Foundation and how it helps families affected by Pompe Disease.
Researcher Beverly L. Davidson, PhD., joins John Legend and Sir Ian McKellen as members of the 2017 class of the American Academy of Arts and Sciences.
BPompe disease is a rare lysosomal storage disorder that impacts muscle strength. Weak muscles of the airways and tongue can affect patients' ability to talk, breath, and swallow.
Dwight Koeberl, MD at Duke University talks about the latest studies being done to test gene therapy for Pompe disease. The interview took place during Duke University's Pompe disease Patient Meeting held April 8th, 2017.
At Duke's Pompe disease patient clinic held on April 8, 2017, we talked with Mihaela Stefanescu and Jennifer Coker about coordinating research and clinical care so that the patient's time (and the researcher's time) during a clinic visit is efficient but not overwhelming.
Dwight Koeberl, MD, at Duke University describes the studies he is doing to test albuterol and clenbuterol as a means to improve enzyme replacement therapy efficacy in patients with Pompe disease
Rare Disease Report had the privilege of interviewing one of our followers, Christina Bouraimi living in Greece, about her son’s rare condition. Theodore has a form of Batten disease that has greatly impacted his cognitive and physical abilities.
Buffy Boger and her 16-year-old daughter face a 15-18 hour day, every two weeks, in order to treat the teenager's Pompe disease with enzyme replacement therapy [Lumizyme (alglucosidase)]. In this clip, Buffy describes the long day.
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