Dwayne’s Pompe story
Hi everyone, my name is Dwayne; I am 57 years old. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I was 50 years old. I…
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Dwayne’s Pompe story
source: Heather Shorten
My Story with Pompe Disease
Written by Heather Shorten, Founder, Pompe Alliance On July 15th, 2015, I was diagnosed with Pompe disease after about 3 years of searching for a diagnosis. I know 3 years…
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My Story with Pompe Disease
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The Importance of Staying Active with Pompe Disease
Written by Vanessa O'Connell Hello, my name is Vanessa, and I am living with late onset Pompe disease, also known as glycogen storage disease type II and acid maltase deficiency.…
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The Importance of Staying Active with Pompe Disease
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WORLDSymposium: Nexviazyme Improves Ptosis in Infantile-Onset Pompe Disease
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…
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WORLDSymposium: Nexviazyme Improves Ptosis in Infantile-Onset Pompe Disease
Newborn Screening Saves Lives and Lowers Costs
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…
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Newborn Screening Saves Lives and Lowers Costs
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FDA Grants Approval for Innovative Dual-Compound Therapy in Pompe Disease
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…
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FDA Grants Approval for Innovative Dual-Compound Therapy in Pompe Disease
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Paralyzed with Pompe Disease, He Took Control, Gained Strength, and Increased Muscle
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…
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Paralyzed with Pompe Disease, He Took Control, Gained Strength, and Increased Muscle
Photo by Paweł Czerwiński on Unsplash
ICYMI: Opfolda for Pompe Disease Now Approved in the European Union
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…
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ICYMI: Opfolda for Pompe Disease Now Approved in the European Union
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Drugs for Pompe Disease and ASMD Will Soon Be Available in India
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…
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Drugs for Pompe Disease and ASMD Will Soon Be Available in India
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Could AI Diagnose Pompe Disease Using Electronic Health Records?
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,…
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Could AI Diagnose Pompe Disease Using Electronic Health Records?
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Pompe Disease Treated Successfully Before Birth
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…
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Pompe Disease Treated Successfully Before Birth
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After 10 Children with Rare Diseases died, Indian MP Varnum Gandhi Warns that more Children are in Danger
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…
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After 10 Children with Rare Diseases died, Indian MP Varnum Gandhi Warns that more Children are in Danger
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In Utero Enzyme Treatment Saved Girl with Pompe Disease
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.…
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In Utero Enzyme Treatment Saved Girl with Pompe Disease
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Carbon-13 Magnetic Resonance Spectroscopy Trial for Pompe Disease Now Enrolling
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…
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Carbon-13 Magnetic Resonance Spectroscopy Trial for Pompe Disease Now Enrolling
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Early ERT Improves Pompe Disease Outcomes
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…
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Early ERT Improves Pompe Disease Outcomes
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ABX1100 for Pompe Disease Earns Orphan Drug Designation
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…
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ABX1100 for Pompe Disease Earns Orphan Drug Designation
EC Approves Nexviazyme for Pompe Disease
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…
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EC Approves Nexviazyme for Pompe Disease
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April 15th is International Pompe Day!
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…
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April 15th is International Pompe Day!
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Phase 1 Trial Begins to Evaluate MZE001 for Pompe Disease
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…
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Phase 1 Trial Begins to Evaluate MZE001 for Pompe Disease
Explaining Pompe Disease to My Son’s Doctors
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…
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Explaining Pompe Disease to My Son’s Doctors
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New Treatment is FDA Approved for Late-Onset Pompe Disease
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…
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New Treatment is FDA Approved for Late-Onset Pompe Disease
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Pompe Disease: Alison’s Rare Patient Story
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…
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Pompe Disease: Alison’s Rare Patient Story
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Researchers May Have Found a More Effective Pompe Disease Treatment
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…
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Researchers May Have Found a More Effective Pompe Disease Treatment
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April 15 is International Pompe Day: Spreading Pompe Disease Awareness
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…
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April 15 is International Pompe Day: Spreading Pompe Disease Awareness
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Data for an Experimental Pompe Disease Therapy to be Presented at Upcoming Conference
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…
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Data for an Experimental Pompe Disease Therapy to be Presented at Upcoming Conference
