News

May 14, 2020May 14, 2020

Urinary Levels of Glc4 Abnormally High in Pompe Patients, Turkish Study Finds

News

Urinary levels of a proposed Pompe disease biomarker known as Glc4 are higher in patients with either infantile-onset or late-onset forms of this disorder compared to healthy individuals in ... Read more

May 13, 2020May 13, 2020

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

News, syndicated

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. ... Read more

May 7, 2020May 7, 2020

Raising Awareness of Late-onset Pompe Crucial to Fight Diagnosis Delay, Study Says

News

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset ... Read more

April 28, 2020April 28, 2020

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

News, syndicated

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in ... Read more

April 23, 2020April 23, 2020

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

News, syndicated

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. ... Read more

April 20, 2020April 20, 2020

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

News

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant ... Read more

April 16, 2020April 16, 2020

Muscle MRI Reveals Deterioration in Late-onset Pompe Patients, Study Says

News

People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat while on treatment, which is linked to reduced muscle strength and motor ... Read more

April 9, 2020April 9, 2020

Two New GAA Mutations Linked to Stroke in Late-onset Pompe Disease, Study Finds

News

Two novel mutations in the GAA gene were linked with cerebral stroke in two siblings with late-onset Pompe disease (PD), a study from China reports. The study, “GAA compound ... Read more

April 2, 2020April 2, 2020

NORD’s Advice on COVID-19: You’re Stronger Than You Think

News

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most ... Read more

March 31, 2020March 31, 2020

NORD Partners with ‘Sing Me a Story’ for July 18–20 Living Rare Forum

News

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. ... Read more