News

August 7, 2019August 7, 2019

ERT for Late-onset Pompe Not Linked to Increased Risk of White Matter Lesions

News

Aging and vascular risk factors, not enzyme replacement therapy or the disease itself, may increase the risk of late-onset Pompe disease patients developing white matter lesions in the brain, ... Read more

August 2, 2019August 2, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

News

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

August 1, 2019August 1, 2019

Wearable Technology Can Help Monitor Mobility Patterns in Late-Onset Pompe, Study Shows

News

Wearable technology that quantifies daily physical activity, such as FitBit One, can help determine mobility patterns and evaluate the clinical status of people with late-onset Pompe disease, a study ... Read more

July 24, 2019July 24, 2019

Start ERT in Symptomatic Late-onset Pompe Patients, Study Says

News

Patients with late-onset Pompe disease (LOPD) should be followed regularly and start on enzyme replacement therapy (ERT) if they develop symptoms, according to an analysis of available guidelines. The ... Read more

July 18, 2019July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

News

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

News

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

News

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

News

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

News

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