Two New GAA Mutations Linked to Stroke in Late-onset Pompe Disease, Study Finds
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 ... Read more
Updates
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NORD’s Advice on COVID-19: You’re Stronger Than You Think
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 ... Read more -
NORD Partners with ‘Sing Me a Story’ for July 18–20 Living Rare Forum
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 ... Read more -
I Have Pompe Disease; Will I Pass It Onto My Children?
Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your partner has Pompe disease, you may ... Read more -
Ultrasound May Help Assess Diaphragm Dysfunction in LOPD Patients
Ultrasound could help evaluate diaphragm and respiratory function in people with late-onset Pompe disease (LOPD), a study suggests. The study, “Ultrasound assessment of diaphragm ... Read more
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Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19
Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate ... -
Small Molecule Improves Muscle, Heart Defects in New Zebrafish Model, Study Finds
A small molecule called 3-BrPA was able to lower levels of glycogen — a ... -
Better Newborn Screening Needed for Pompe, Could Improve Prognosis, Report Says
The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in ... -
Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds
The number of treatments for children with rare diseases has grown over the past decade, ... -
Albuterol With ERT Improves Lung, Motor Function in LOPD Patients, Phase 1/2 Trial Shows
When used in combination with enzyme replacement therapy, albuterol improves lung and motor function ... -
Video: BioNews’ Social Media Campaign Highlights #WhatMakesMeRare
In recognition of Rare Disease Day Feb. 29, BioNews Services launched a social media ...
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 ... Read more