Pompe Disease News

June 16, 2022June 16, 2022

Atrophy-related Protein BNIP3 May Be New Target in LOPD

Pompe Disease News

The levels of BNIP3, a protein implicated in muscle fiber atrophy and increased autophagy — two features of late-onset Pompe disease (LOPD) — are increased in muscle samples from LOPD ... Read more

June 9, 2022June 9, 2022

Stem Cell Gene Therapy Blocks Anti-GAA Immune Response in Mice

Pompe Disease News

Administrating a stem cell gene therapy before beginning enzyme-replacement therapy (ERT) prevented the development of antibodies against the acid alpha-glucosidase (GAA) enzyme, improved survival, and enhanced therapeutic benefits in a ... Read more

May 31, 2022May 31, 2022

Urinary Tract Problems May Be Common With IOPD, Despite ERT

Pompe Disease News

Lower urinary tract symptoms, including a loss of bladder control and unusual urine flow, are prevalent among children with classic infantile-onset Pompe disease (IOPD) who begin treatment early with enzyme-replacement therapy ... Read more

May 24, 2022May 24, 2022

Avrobio‘s AVR-RD-03 Gene Therapy Effective in Pompe Mouse Model

Pompe Disease News

AVR-RD-03, Avrobio‘s experimental blood stem cell gene therapy for classic infantile-onset Pompe disease, was found to be safe and effective in a mouse model of the disease. The findings, presented ... Read more

May 17, 2022May 17, 2022

Pain, Evident in LOPD Patients on ERT, Not Likely Due to Nerve Damage

Pompe Disease News

Pain is relevant but appears to be unrelated to damage to small nerve fibers in the skin of late-onset Pompe disease patients who are using enzyme replacement therapy, a study found. ... Read more

May 10, 2022May 10, 2022

Spark Seeking Applications for Its Research Grants Until May 31

Pompe Disease News

Spark Therapeutics is offering new research grants to scientists working on a number of topics related to Pompe disease. Its Competitive Research Grant Program in Pompe disease is accepting submissions ... Read more

May 3, 2022May 3, 2022

L-alanine Supplements Improve Metabolism for Girl, 9, With IOPD

Pompe Disease News

Adding L-alanine supplements to standard enzyme replacement therapy (ERT) for a young girl with Pompe disease led to improvements in several metabolic and body composition measures, a case report shows. ... Read more

May 2, 2022May 2, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

Pompe Disease News

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ... Read more

April 26, 2022April 26, 2022

6MWD Test Reliable Measure of Motor Decline in LOPD, Study Finds

Pompe Disease News

The six-minute walk distance (6MWD) test is a reliable measure of declines in motor abilities in people with late-onset Pompe disease (LOPD), a two-year study that evaluated a series of ... Read more

April 20, 2022April 20, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

Pompe Disease News

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health ... Read more

April 19, 2022April 19, 2022

Enlarged Tongue Leads to Severe Symptoms in Elderly LOPD Patients

COVID-19 News, Pompe Disease News

Macroglossia, or an abnormally enlarged tongue, caused difficulty swallowing, speech abnormalities, and reduced breathing during sleep for five people with late-onset Pompe disease (LOPD), according to a recent French study. ... Read more

April 13, 2022April 13, 2022

Telehealth Added to Latest Digital-friendly NORD State Report Card

COVID-19 News, Pompe Disease News

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues ... Read more

April 12, 2022April 12, 2022

9th Annual Global Event to Highlight Strength of Patient Community

Pompe Disease News

The 9th annual International Pompe Day will be celebrated on April 15 to raise global awareness of Pompe disease and highlight the strength and resilience of the patient community. The ... Read more

April 5, 2022April 5, 2022

COVID-19 Symptoms Mild for Medium, High-risk Patients in Study

COVID-19 News, Pompe Disease News

Infection by SARS-CoV-2, the virus that causes COVID-19, led to mild symptoms and no hospitalizations in people diagnosed with Pompe disease, a small Dutch study reports. However, since the patients ... Read more

March 29, 2022March 29, 2022

Whole Body Vibration Improves Muscle Mass, Movement in 3 Pompe Children

Pompe Disease News

An intervention involving whole body vibration therapy showed promise for improving movement ability and muscle composition in a small study involving three children with non-classic infantile-onset Pompe disease. The study, ... Read more