Pompe Disease News

June 17, 2021June 17, 2021

Get Ready for NORD’s Patient and Family Forum, Set for June 26-27

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the ... Read more

June 15, 2021June 15, 2021

UK Gives Eligible Late-onset Pompe Patients Early Access to AT-GAA

Pompe Disease News

AT-GAA, an investigational therapy by Amicus Therapeutics for late-onset Pompe disease, will be available to select patients in the U.K. through an early access program before its potential regulatory approval. ... Read more

June 7, 2021June 7, 2021

Rare 2030 Action Campaign Pushing for European Plan for Rare Diseases

Pompe Disease News

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in ... Read more

June 1, 2021June 1, 2021

Advocates Can Try for Grants Ahead of Rare Disease Week on Capitol Hill

Pompe Disease News

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in ... Read more

May 25, 2021May 25, 2021

LOPD Patients Can Walk Farther After Enzyme Replacement Therapy

Pompe Disease News

Walking distance improved in late-onset Pompe disease patients on enzyme replacement therapy (ERT), while their lung function and muscle strength remained unchanged, a meta-analysis has found. More studies are, however, needed ... Read more

May 18, 2021May 18, 2021

Study: Pompe More Common Than Previously Estimated

Pompe Disease News

The number of people with Pompe disease varies according to ethnic group and may be higher among all ethnicities than previously estimated, a study suggests. According to the investigator, the study ... Read more

May 11, 2021May 11, 2021

FDA Filing of AT-GAA for Late-onset Pompe Expected by Mid-Year

Pompe Disease News

Amicus Therapeutics anticipates completing a rolling application by mid-year to seek approval of its investigational therapy AT-GAA for late-onset Pompe disease in the U.S. The announcement follows a pre-filing meeting ... Read more

May 4, 2021May 4, 2021

FDA Extends Review of Avalglucosidase Alfa, Next-gen ERT, Into August

Pompe Disease News

The U.S. Food and Drug Administration (FDA) has extended by three months its review of Sanofi Genzyme‘s application seeking approval of avalglucosidase alfa, its next-generation enzyme replacement therapy (ERT) for Pompe disease. The date ... Read more

April 27, 2021April 27, 2021

Muscle Fat Replacement Linked to Respiratory Impairment

Pompe Disease News

Fat replacement of back, abdominal, and trunk muscles in late-onset Pompe disease (LOPD) correlates with diaphragm weakness and worsening respiratory function, a long-term clinical study has determined. “These results suggest that ... Read more

April 21, 2021April 21, 2021

Quick Approval for COVID Vaccines a Concern, Rare Disease Patients Say

COVID-19 News, Pompe Disease News

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine ... Read more

April 20, 2021April 20, 2021

LEMS Therapy Eases Nerve-Muscle Problems in Pompe Zebrafish Model

Pompe Disease News

Administration of 3,4-diaminopyridine phosphate (3,4-DAPP) eased problems at the neuromuscular junction (NMJ) — sites of nerve-muscle communication — in a zebrafish model of Pompe disease. Results suggest that the medication, ... Read more

April 15, 2021April 15, 2021

EveryLife Scholarship Fund Open Until May 7 for Adults With Rare Diseases in US

COVID-19 News, Pompe Disease News

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a ... Read more

April 13, 2021April 13, 2021

First Patient Dosed in FORTIS Trial of AT845 for LOPD

Pompe Disease News

The first patient has been dosed in the FORTIS Phase 1/2 trial of AT845, a single-dose gene therapy for adults with late-onset Pompe disease (LOPD). AT845 is designed to deliver a ... Read more

April 6, 2021April 6, 2021

Upcoming International Pompe Day Aims to Raise Awareness

Pompe Disease News

In an effort to raise public awareness and increase understanding of Pompe disease, the 8th Annual International Pompe Day will be celebrated on April 15. This year’s theme is “Pompe ... Read more

March 31, 2021March 31, 2021

Cost of Rare Diseases in US? Nearly $1 Trillion in 2019, EveryLife Foundation Finds

Pompe Disease News

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking. But exactly how expensive — in terms of ... Read more