Pompe Disease News and Research

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Pompe disease is a rare and often fatal muscle disease caused by an inherited deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen within cells. Pompe disease ranges from a rapidly fatal infantile-onset form with severe cardiac involvement to a more slowly progressive late-onset form primarily affecting skeletal muscle. There is currently no therapeutic treatment available for the disease, which affects an estimated 5,000-10,000 people worldwide.

Adeno-associated virus: The gene therapy revolution faces manufacturing and safety hurdles

Recombinant adeno-associated virus (rAAV)-based genetic applications to treat human diseases.

5 Apr 2024

Pioneering AI-based approach identifies rare disease patients using electronic health records

Research paper describes the use of Symptoma's AI-based approach to identify patients with Pompe disease from retrospective electronic health records. The study found a prevalence of one in every 18,427 people for Pompe disease in the greater Salzburg region and established phenotypes for patient cohorts with an onset of symptoms above or below 1 year of age.

11 May 2023

Duke scientists join team involved in the first use of fetal therapy for Pompe disease

Experts at Duke Health were among a multi-national team involved in treating a fetus for infantile-onset Pompe disease using an enzyme replacement therapy - a first in the world.

9 Nov 2022

FDA approves an intravenous medication to treat patients with Pompe disease

Today, the U.S. Food and Drug Administration approved Nexviazyme (avalglucosidase alfa-ngpt) for intravenous infusion to treat patients 1 year of age and older with late-onset Pompe disease.

6 Aug 2021

New and more effective treatment for Pompe disease

Rare diseases are sometimes the most difficult to treat because of a lack of research and fewer participants to study.

16 Apr 2021

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lyosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system.

3 Feb 2021

Researchers use guide RNAs to improve base editing system

Researchers have used guide RNAs to improve the adenine base editing (ABE) system, used by scientists to alter genetic codes in animal models of disease.

1 Aug 2018

New, sensitive screening test may allow clinicians to accurately detect Pompe disease

Researchers identified a new, more sensitive screening test to recognize Pompe disease, a metabolic disorder affecting cellular processing of glycogen in numerous tissues of the body.

2 Jan 2018

Counteracting premature aging

Aging is the continuing process of such stress exposures, and with advancing age (normal aging), we must carry lots of senescent cells within our bodies. Senescent cells also often provide some ‘bad influences’ to surrounding healthy cells; such as chronic inflammation and tumorigenesis

14 Aug 2017

New gene therapy for Pompe disease may replace currently available treatments

After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients.

27 Jan 2017

Combined genetic disruptions can counteract premature aging, TSRI study suggests

In a new study, scientists from the Florida campus of The Scripps Research Institute have shown how two genes "balance" each other to maintain normal cell function.

22 Dec 2016

Researchers find conceivable alternative way to treat Pompe disease

Researchers at Duke Health have identified a potential new avenue for treating Pompe disease, a rare condition caused by the build-up of glycogen, a storage form of sugar, in cardiac and skeletal muscle, the liver and other tissues, due to deficiency of a particular enzyme.

25 Jul 2016

Researchers develop molecule that binds to GAA enzymes key to progress of Pompe disease

Researchers at Leiden University have made a breakthrough in the study of the hereditary Pompe disease. Together with colleagues in York, they have developed a molecule that binds to the enzyme that is key to the progress of the disease. The findings have been published in ACS Central Science.

4 May 2016

New fluorescent chemical probes that measure enzyme levels can diagnose inherited genetic disorders

Scientists at the Universities of York and Leiden have made a significant breakthrough in the treatment of an inherited genetic disorder which damages muscle and nerve cells in the body.

29 Apr 2016

Valerion announces positive results from non-clinical pilot study of VAL-1221 for treatment of Pompe disease

Valerion Therapeutics, LLC yesterday announced positive results from a non-clinical "proof of concept" pilot study for a novel humanized antibody and acid alpha glucosidase (GAA) fusion candidate for the treatment of Pompe disease.

3 Sep 2015

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare disorders, announced today the submission to the Comisión Federal para la Protección contra Riesgos Sanitarios in Mexico for Kanuma as a treatment for patients with lysosomal acid lipase deficiency (LAL Deficiency), a rare genetic disease with significant morbidity and early mortality.

30 Mar 2015

European scientists set up new therapeutic approaches to tackle gene defects

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under the age of 10, often with devastating consequences.

15 Apr 2014

Research suggests that person can slow aging process by exercising regularly

New research by Canadian sports medicine physician Mark Tarnopolsky, MD, PhD, suggests that a person can slow the speed at which they age by exercising regularly. Dr. Tarnopolsky presented his research titled, "Exercise as a Countermeasure for Aging: From Mice to Humans" today at the 23rd Annual Meeting of the American Medical Society for Sports Medicine (AMSSM). Dr. Tarnopolsky discussed how regular exercise not only improves the quality of life but can also extend a person's lifespan by up to five years.

8 Apr 2014

Longer looks: Doctor guilt; an abortion provider's hidden record

Okay, I know I'm a health writer, but I really don't like going to the doctor. Part of it is an unshakeable, irrational certainty that they will find something horribly wrong with me that I'd rather not know about, and part of it is a rational certainty that they will find something mildly wrong with me that is my fault and chastise me for it-;drinking too much, not exercising enough, whatever. One should be able to talk to one's doctor about these things-;the aspects of one's lifestyle that maybe aren't so great. ... But in 2009, a study by researchers at the University of California, San Diego found that half of the patients surveyed had experienced shame as a result of something a doctor said to them.

31 Jan 2014

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

The exact definition of orphan diseases varies depending on where you are in the world. In the EU it's defined as a prevalence of less than 1 in 2,000, which equates to about 250,000 patients across the EU.

4 Dec 2013