Updates

April 15, 2021April 15, 2021
EveryLife Scholarship Fund Open Until May 7 for Adults With Rare Diseases in US

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 ... Read more
April 13, 2021April 13, 2021
First Patient Dosed in FORTIS Trial of AT845 for LOPD

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 ... Read more
April 6, 2021April 6, 2021
Upcoming International Pompe Day Aims to Raise Awareness

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. ... Read more
March 31, 2021March 31, 2021
Cost of Rare Diseases in US? Nearly $1 Trillion in 2019, EveryLife Foundation Finds

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 ... Read more
March 30, 2021March 30, 2021
Maze Therapeutics Aims to Bring Oral Pompe Therapy Into Clinical Testing

Maze Therapeutics announced its first three lead therapeutic candidates, including an investigational oral medication designed to treat Pompe disease. Pompe disease is caused by genetic mutations ... Read more

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May 2, 2018May 2, 2018

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports

News

Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was published ... Read more

Updates

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

First Patient Dosed in FORTIS Trial of AT845 for LOPD

Upcoming International Pompe Day Aims to Raise Awareness

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

Maze Therapeutics Aims to Bring Oral Pompe Therapy Into Clinical Testing

Subscribe to our mailing list

Gene Therapy Trial Recruiting Adults with Late-onset Pompe in US

#MDA2021 — Miglustat’s Role in AT-GAA as Possible Therapy Described

Experts Warn Against Interrupting Pompe Treatment During Pandemic

How Will Pompe Disease Affect My Work Life?

Pink, Green, Blue and Purple Lights Illuminated World for Rare Disease Day

Myozyme Effectiveness in LOPD Fades Over Time, Real-world Study Finds

Your Daily Routine With Late Onset Pompe Disease

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

Early ERT Key in Severe Classic Infantile Pompe

Shoshin for Adults Living With Pompe Disease

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

Amicus Updates Data from AT-GAA Phase 3 PROPEL Trial

Pompe Disease Advocacy

Pandemic Won’t Stop Rare Disease Day on Feb. 28

Ventilation for Pompe Disease – What You Need to Know

First Patient Dosed in Gene Therapy Trial for LOPD

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

FAQs About Lumizyme for Pompe Disease

Large-scale Blood Analysis Identifies Protein, Lipid Changes in Pompe

Respite Care for Pompe Disease

COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say

NORD’s Caregiver Respite Program Continues Through Pandemic

Chest MRI May Capture Respiratory Muscle Weakness at Early Stages

Pompe Disease and Hearing

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports