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.
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.
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.
Rare diseases are sometimes the most difficult to treat because of a lack of research and fewer participants to study.
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.
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.
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.
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Audentes Therapeutics, Inc., a recently founded biotechnology company dedicated to the development of innovative treatments for rare muscle diseases, today announced the closing of a $30 million Series A financing.
Dr Patrick Tan from A*STAR's Genome Institute of Singapore has received the 2013 Chen New Investigator Award from the international Human Genome Organisation.