The 20th annual WORLDSymposium took place from February 4-9, 2024. During the course of the research conference, at least one presentation centered on data from the Phase 2 Mini-COMET long-term…
Zachary Thomas has been an advocate for the mucopolysaccharidosis type I (MPS I) community since he was born. Newborn screening is a public health initiative that tests newborn babies for…
One of the most successful healthcare services benefiting the public is newborn screening. Unfortunately, this life-saving health initiative is not provided for all rare diseases in some U.S. states. As…
After years of seeking approval for the treatment of Pompe disease, this week, as reported by GlobeNewswire, the FDA granted approval to its developer, Amicus Therapeutics, for the first…
It was the second time 26-year-old Bruce Campbell had to deal with paralysis. At the age of six, he was paralyzed by Guillian-Barre syndrome which caused an attack on…
In March 2023, the European Commission (EC) approved Pombiliti (cipaglucosidase alfa) for the treatment of adult patients living with late-onset Pompe disease. Just three months later in June, another…
Over 10,000 rare diseases have been identified globally, a large majority of which are genetic in origin. But despite the scope of rare diseases, treatment can still be difficult to…
As it currently stands, it can be difficult to diagnose a rare disease. Many patients require multiple specialist visits over years (the average rare disease diagnosis takes 4-5 years,…
Ayla Bashir and her parents, Sobia Qureshi and Zahid Bashir, have participated in a medical first with Ayla surviving Pompe disease. The same disease caused the death of her…
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…
Sign Up With a Patient Worthy Account and Share Your Rare Story
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
