News

December 5, 2019December 5, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

News

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s ... Read more

December 3, 2019December 3, 2019

Experts Barry Byrne, Jerry Mendell Lead NORD Webinar on Gene Therapy

News

A glance around the walls of Barry J. Byrne’s office reveals a lot about the pediatric cardiologist who runs the Powell Gene Therapy Center at University of Florida (UF). In ... Read more

November 21, 2019November 21, 2019

Case Report Demonstrates Presence of Polyneuropathy In LOPD

News

People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case report about four patients shows. Such nerve damage in ... Read more

November 14, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

News

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. ... Read more

November 14, 2019November 14, 2019

Study Finds Association Between Whole-body MRI Measurements and Muscle Function Scores

News

Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. The study, “Whole‐body MRI in ... Read more

November 7, 2019November 7, 2019

Molecular ‘Tag’ Improves Efficacy of Gene Therapy for Pompe Disease in Mice, Study Shows

News

A molecular “tag” to improve distribution of the acid-alpha glucosidase (GAA) protein within cells enhanced the efficacy of gene therapy in a mouse model of Pompe disease, a recent ... Read more

October 31, 2019October 31, 2019

Enzyme Replacement Therapy Loses Effectiveness in Pompe Patients with Long-term Use, Study Suggests

News

Long-term enzyme replacement therapy (ERT) to treat people with Pompe disease loses effectiveness in maintaining walking ability, muscle strength, and lung function, a new study shows. Despite these results, ERT ... Read more

October 24, 2019October 24, 2019

Active Ingredient of Blood Pressure Treatment Boosts ERT’s Efficacy in Skeletal Muscles, Mouse Study Suggests

News

Adding carvedilol, the active compound of a blood pressure medicine, to enzyme replacement therapy (ERT) for Pompe disease can improve its effectiveness in reaching and strengthening skeletal muscles, a study ... Read more

October 16, 2019October 16, 2019

Fluid Build-up in Newborn Could Be Sign of Infantile-onset Pompe, Case Study Says

News

A case report of a baby boy diagnosed with abnormal fluid accumulation due to infantile-onset Pompe disease highlights the importance of considering this type of Pompe as the root cause, ... Read more

October 9, 2019October 9, 2019

AT-GAA Continues to Induce Motor, Lung Improvements in Pompe Adult Patients, Phase 1/2 Study Shows

News

Amicus Therapeutics’s investigational therapy AT-GAA (ATB200/AT221) continues to show promise as a safe and effective treatment for adults with Pompe disease, according to the latest results from an ongoing Phase 1/2 clinical ... Read more