News

July 18, 2019July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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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 also accelerating the development of ... Read more

July 17, 2019July 17, 2019

Extended Database Links Pompe Mutations to Predicted Clinical Severity

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A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict outcomes. The study, “Extension of ... Read more

July 10, 2019July 10, 2019

Tongue Abnormalities Seen on MRI are Common in Late-Onset Pompe, Study Says

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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. This particular imaging feature may ... Read more

July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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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 problems as Alport syndrome. Although ... Read more

July 3, 2019July 3, 2019

Amicus and Paragon Working to Advance Potential Gene and Other Therapies for Rare Diseases Like Pompe

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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 testing for the treatment of ... Read more

June 26, 2019June 26, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 21, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 19, 2019June 19, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most ... Read more

June 12, 2019June 12, 2019

Asthma Medicine Salmeterol Improves Effectiveness of Gene Therapy for Pompe Disease, Mouse Study Suggests

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Salmeterol, a vasodilator approved for the treatment of asthma and chronic obstructive pulmonary disease (COPD), has shown potential to improve the effectiveness of gene therapy for Pompe disease. Studies ... Read more

June 5, 2019June 5, 2019

Amicus, Perelman School of Medicine Expand Collaboration to Develop Gene Therapies

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Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have expanded their research collaboration to develop new gene therapies for Pompe disease as well as ... Read more