Pompe Disease News

May 28, 2020May 29, 2020

Lumizyme-Myozyme Given Early and at Higher Dose May Be Best for Infantile-onset Pompe

Pompe Disease News

When administered early and above its recommended dose, Myozyme (alglucosidase alfa, known as Lumizyme in the U.S.) may improve the clinical outcomes and prognosis of people with infantile-onset Pompe disease ... Read more

May 21, 2020May 21, 2020

Plant-based ERT May Hold Promise in Pompe Disease, Small Study Suggests

Pompe Disease News

A moss-derived type of enzyme replacement therapy (ERT) for Pompe disease may be more effective than the currently approved ERT in targeting muscle cells, according to a small study. Since the ... Read more

May 14, 2020May 14, 2020

Urinary Levels of Glc4 Abnormally High in Pompe Patients, Turkish Study Finds

Pompe Disease News

Urinary levels of a proposed Pompe disease biomarker known as Glc4 are higher in patients with either infantile-onset or late-onset forms of this disorder compared to healthy individuals in the ... Read more

May 7, 2020May 7, 2020

Raising Awareness of Late-onset Pompe Crucial to Fight Diagnosis Delay, Study Says

Pompe Disease News

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset Pompe ... Read more

May 5, 2020May 5, 2020

What to Expect from Physiotherapy When You Have Pompe Disease

Pompe Disease News

People who have Pompe disease likely will need an array of healthcare specialists to help them manage symptoms of their rare genetic condition, which results from the abnormal buildup of ... Read more

April 28, 2020April 28, 2020

What’s an IEP, and How Can It Help Children with Pompe Disease?

Pompe Disease News

Children with Pompe disease, like other children with special needs, may benefit from an individualized education plan (IEP; also called an individualized education program). What is an IEP? An IEP, ... Read more

April 20, 2020April 20, 2020

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

Pompe Disease News

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship ... Read more

April 16, 2020April 16, 2020

Muscle MRI Reveals Deterioration in Late-onset Pompe Patients, Study Says

Pompe Disease News

People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat while on treatment, which is linked to reduced muscle strength and motor function, ... Read more

April 14, 2020April 14, 2020

Pompe Disease and Pregnancy

Pompe Disease News

Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides instructions for making an important enzyme called acid alpha-glucosidase (also known as acid maltase). ... Read more

April 9, 2020April 9, 2020

Two New GAA Mutations Linked to Stroke in Late-onset Pompe Disease, Study Finds

Pompe Disease News

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 reports. The study, “GAA compound heterozygous ... Read more

April 2, 2020May 10, 2020

NORD’s Advice on COVID-19: You’re Stronger Than You Think

COVID-19 News, Pompe Disease News

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 the novel coronavirus than most people. ... Read more

March 31, 2020May 15, 2020

NORD Partners with ‘Sing Me a Story’ for July 18–20 Living Rare Forum

COVID-19 News, Pompe Disease News

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 of the coronavirus disease COVID-19 pandemic. The ... Read more

March 30, 2020March 31, 2020

I Have Pompe Disease; Will I Pass It Onto My Children?

Pompe Disease News

Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your partner has Pompe disease, you may wonder whether the disease will also ... Read more

March 26, 2020March 26, 2020

Ultrasound May Help Assess Diaphragm Dysfunction in LOPD Patients

Pompe Disease News

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 function in patients with late-onset Pompe ... Read more

March 20, 2020March 21, 2020

Small Molecule Improves Muscle, Heart Defects in New Zebrafish Model, Study Finds

Pompe Disease News

A small molecule called 3-BrPA was able to lower levels of glycogen — a complex sugar that builds up to toxic levels in Pompe disease — and ameliorate muscle and ... Read more