David Kuter, MD of Massachusetts General Hospital talks about the global Gaucher earlier diagnosis consensus (GED-C) initiative that is being developed to help clinicians diagnose many of the Gaucher disease patients that may not be getting properly diagnosed because their symptoms are not as severe.
David Kuter, MD, of Massachusetts General Hospital provides an overview of Gaucher disease and how it is currently managed.
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Gaucher disease is a lysosomal storage disease whose onset can be slow and difficult to diagnose since the symptoms can be heterogeneous and often mimic other conditions.
The phase 3 trial named COMET is a randomized, multi-center, multi-national, double-blinded study comparing bi-weekly infusions of neoGAA and alglucosidase alfa (Lumizyme) in treatment-naïve patients with late-onset Pompe disease.
Priya Kishnani, MD, PhD was instrumental in getting an orphan drug approved for Pompe disease. But the management of Pompe disease requires a multidisciplinary approach and enzyme replacement therapy is only one part of that care.
Brad Crittenden, president of the Canadian Association of Pompe talks about the current regional systems that are set up to dispense orphan drugs to Canadians and why this fragmented system is one of the reasons why the country needs an Orphan Drug Framework at the national level.
Dawn Laney, MS, GCG, CCGC at Emory University talks about the MOPPet study which is following children diagnosed with Fabry disease via new born screening and collecting patient/caregiver data over the next 4 years.
Drs Marshall and Bongarzone hypothesize that ‘pathophysiological mechanisms underlying Krabbe's disease share a connection to neuronal vulnerability in neurodegenerative synucleinopathies, suggesting that mutations in Krabbe's disease may even constitute risk factors for synucleinopathies such as Parkinson's disease.’