European Initiative Targets Diagnosis, Treatment of Rare Diseases
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while ... Read more
Updates
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Extended Database Links Pompe Mutations to Predicted Clinical Severity
A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict ... Read more -
Tongue Abnormalities Seen on MRI are Common in Late-Onset Pompe, Study Says
Magnetic resonance imaging (MRI) showing an abnormally bright signal in the tongue is common among patients with late-onset Pompe disease, a study has found. ... Read more -
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing ... Read more -
Amicus and Paragon Working to Advance Potential Gene and Other Therapies for Rare Diseases Like Pompe
Amicus Therapeutics announced that it has entered into a manufacturing agreement with Paragon Bioservices to drive the development of technologies, including gene therapies, now in preclinical ... Read more
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NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ... -
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to ... -
Asthma Medicine Salmeterol Improves Effectiveness of Gene Therapy for Pompe Disease, Mouse Study Suggests
Salmeterol, a vasodilator approved for the treatment of asthma and chronic obstructive pulmonary disease ... -
Amicus, Perelman School of Medicine Expand Collaboration to Develop Gene Therapies
Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have ... -
Gene Therapy Candidate Holds Promise for Correcting Pompe Disease in Muscles and Brain, Mouse Study Suggests
Amicus Therapeutics announced positive preclinical data showing that its investigational gene therapy for Pompe ...
Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports
News
Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was ... Read more