New Delhi: Recent headlines in the Hindustan Times highlighted a letter written by the leader of the Bharatiya Janata Party, Varnum Gandhi, to Health Minister Mansukh Mandaviya urging him…
Unfortunately, life has not always been kind to Zahid Bashir and Sobia Qureshi. The couple lost two children to Pompe disease, a rare genetic disease caused by GAA gene mutations.…
Those living with diseases like Pompe disease and McArdle disease have genetic mutations which prevent their bodies from adequately breaking down glycogen, a type of complex sugar found at…
Enzyme replacement therapy (ERT) is an approved treatment strategy for those with Pompe disease. It involves providing patients with alpha-glucosidase, which helps to break down glycogen. In addition to reducing…
In the United States, Orphan Drug designation is a special status granted to drugs or biologics intending to treat, prevent, or diagnose a rare disease or condition. A "rare" condition…
The last approved treatment option for Pompe disease in Europe was given approval in 2006, so 16 years ago. However, the European Commission (EC) recently approved a new therapeutic…
April 15, 2022 marks the 9th annual International Pompe Day, designed to help raise awareness and education around Pompe disease. The slogan of International Pompe Day is "Together We…
According to a relatively recent news release from biopharmaceutical company Maze Therapeutics, the company has begun dosing healthy volunteers in a Phase 1 clinical trial. During the trial, researchers are…
Having a rare disease can feel isolating. Many people have never even heard of your condition, much less know anything about it. This is even a problem with doctors. Despite…
According to a story from Pharmacy Times, the US Food and Drug Administration (FDA) has recently approved a new treatment for late-onset Pompe disease. The drug, developed by the biopharmaceutical…
When Alison was just nine months old, she was diagnosed with a mild case of cerebral palsy. To this day, she and her doctors still aren’t certain if that's what…
According to News Medical, researchers from the University of Cincinnati presented findings on a potentially new and effective treatment option for Pompe disease at the virtual American Academy of Neurology…
According to a story from Pompe Disease News, April 15th will be recognized as the eighth annual International Pompe Day. This day is meant to spread awareness about Pompe disease…
According to a press release from Sanofi, platform and poster presentations focused on the company's investigational product candidate avalglucosidase alfa are slated to be made public at the 17th annual…
At the start of February, gene therapy company Spark Therapeutics ("Spark") announced that the first participant in the RESOLUTE trial was dosed with SPK-3006. The trial is evaluating the…
According to a press release from the biopharmaceutical company Sanofi, the company's investigational treatment avalglucosidase alfa will have its Biologics License Application (BLA) evaluated by the US Food and Drug…
According to a press release from the biopharmaceutical company Sanofi, the Biologics License Application (BLA) for its drug avalglucosidase alfa has been accepted by the US Food and Drug Administration…
Patient registries are a great way for patients to get involved in shaping future research around their conditions. Many times, getting involved in a rare disease (or rare disorder)…
AVROBIO AVROBIO is based out of Cambridge, Massachusetts. They specialize in single-dose gene therapy as a cure for rare genetic conditions such as cystinosis, Gaucher disease, and Fabry disease. Most…
Every day, medical researchers look to learn more about rare diseases, symptoms, and treatment. Recently, the Muscular Dystrophy Association (MDA) connected with Dr. Priya Sunil Kishnani, MD, MBBS to discuss what…
According to Batten Disease News, Invitae and Axovant Gene Therapies partnered up to offer free genetic testing in North America. This will focus on children who are thought to…
So you're looking to get pregnant or curious about some part of it. Well, you've come to the right place! If you're looking to have a baby, but you also…
April 15th, 2020 will be the 7th annual International Pompe Day, a day of recognition and fostering awareness around Pompe disease organized by the International Pompe Association. Like many rare…
Sanofi There are an estimated 350 million rare disease patients across the world. Many conditions still don't have treatments. However, there are scientists dedicating their lives solely to this endeavor.…
By Danielle Bradshaw from In The Cloud Copy Pompe disease is the lack of a specific protein within the body that helps break down glycogen - a complex sugar that…
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