News

January 23, 2020January 23, 2020

CHOC Children’s Given $8M to Develop Next-Generation Therapies for Pompe Disease

News

The Foundation of Caring has given $8 million to support CHOC Children’s efforts to develop next-generation therapies for Pompe disease. In honor of the gift, the program has been ... Read more

January 16, 2020January 16, 2020

Amicus Completes Patient Enrollment for Phase 3 Trial of AT-GAA; Remains on Track to File BLA in 2021

News

Amicus Therapeutics has completed and exceeded patient enrollment for its Phase 3 PROPEL trial of AT-GAA, its investigational chaperone therapy for the treatment of Pompe disease. The company also ... Read more

January 9, 2020January 9, 2020

The Assistance Fund Now Includes Pompe Disease

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To help patients and families facing out-of-pocket medical costs, The Assistance Fund (TAF) has opened a new program for eligible individuals living with Pompe disease. The program assists with treatment-related ... Read more

January 2, 2020January 2, 2020

Problems with Diaphragm Evident in Lung Function Tests of LOPD Patients, Study Reports

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People with late-onset Pompe disease (LOPD) have lower dynamic diaphragm function and altered endurance and strength during inhalation, but they show some compensatory mechanisms to preserve air volume, according to ... Read more

December 19, 2019December 19, 2019

Nerve Damage-induced Muscle Atrophy Coexists with Pompe Disease, Study Asserts

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Patients with Pompe disease also may exhibit motor neuronopathy (motor and nerve deficits due to neuron degeneration) in addition to the classical myopathy (muscle disease) features, a case study suggests. ... Read more

December 12, 2019December 12, 2019

MDA Seeks Patient Input for First Pompe Disease Drug Development Meeting in Washington

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The Muscular Dystrophy Association is set to host the first Pompe disease Patient-Focused Drug Development (PFDD) meeting next year to inform therapy developers, regulators, and other stakeholders about the ... Read more

December 11, 2019December 11, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

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With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough ... Read more

December 5, 2019December 5, 2019

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

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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