Pompe Disease News

September 15, 2021September 15, 2021

New Institute Aims to Leave No Rare Disease Patient Behind

Pompe Disease News

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest ... Read more

September 14, 2021September 14, 2021

Broad Age of Onset May Link GAA Variants With Modifying Factors

Pompe Disease News

The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes ... Read more

September 8, 2021September 8, 2021

Group Focuses on Rare Disease Clinical Trial Participation

Pompe Disease News

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running ... Read more

September 7, 2021September 7, 2021

Early ERT Use May Lessen Hearing Loss in Infantile-onset Pompe

Pompe Disease News

Starting treatment with enzyme-replacement therapy (ERT) in the first days of life appears to lessen the risk of hearing impairments in children with infantile-onset Pompe disease (IOPD), researchers report. “Our ... Read more

September 1, 2021September 1, 2021

‘Running for Rare’: NORD a Charity Partner of 2021 NYC Marathon

Pompe Disease News

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both ... Read more

August 31, 2021August 31, 2021

At-home Muscle Test May Help Monitor LOPD

COVID-19 News, Pompe Disease News

Electrical impedance myography (EIM), a non-invasive and painless muscle test that can be conducted at home, is associated significantly with functional measures in adults with late-onset Pompe disease (LOPD), according to ... Read more

August 26, 2021August 26, 2021

‘Not Alone in the Dark’: New Guide for, by Caregivers of Children With Rare Diseases

Pompe Disease News

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The ... Read more

August 24, 2021August 24, 2021

Q&A with Sanofi: Nexviazyme Safely Aids Muscle Strength in LOPD

Pompe Disease News

Newly approved, Nexviazyme (avalglucosidase alfa) is a next-generation, alternative enzyme replacement therapy for late-onset Pompe disease patients starting at age 1. In clinical trials that supported the Aug. 6 approval by the ... Read more

August 18, 2021August 18, 2021

Register Now for Global Genes’ RARE Patient Advocacy Summit

Pompe Disease News

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending ... Read more

August 17, 2021August 17, 2021

GI Symptoms in LOPD Widespread, Study Finds

Pompe Disease News

More attention should be given to evaluating the gastrointestinal symptoms of individuals with late-onset Pompe disease (LOPD) because they cause a significant disease burden, according to a recent study. The ... Read more

August 10, 2021August 10, 2021

NORD Rare Disease Summit, Online Oct. 18-19, Open for Registration

COVID-19 News, Pompe Disease News

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for ... Read more

August 9, 2021August 9, 2021

FDA Approves Nexviazyme, Next-generation ERT for Late-onset Pompe

Pompe Disease News

The U.S. Food and Drug Administration (FDA) has approved Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy for late-onset Pompe disease. The medication, administered by infusion into the bloodstream every ... Read more

August 5, 2021August 5, 2021

Advocates Lobby US Congress During Virtual Rare Disease Week

COVID-19 News, Pompe Disease News

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the ... Read more

August 3, 2021August 3, 2021

Pompe Genetic Prevalence Higher in Korea Than Japan

Pompe Disease News

Based on a literature and database analysis, the predicted genetic prevalence of disease-related variants in the GAA gene — the underlying cause of Pompe disease — is higher in the ... Read more

July 29, 2021July 29, 2021

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

Pompe Disease News

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other ... Read more