Pompe Disease News

January 11, 2022January 11, 2022

Maze Raises $190M, Gears Up for First Clinical Testing of MZE001

Pompe Disease News

Maze Therapeutics has announced its plans to begin clinical testing of MZE001, its lead candidate therapy for Pompe disease, in the first half of this year. The California-based precision medicine ... Read more

January 4, 2022January 4, 2022

Increased Myozyme Dosing May Help With Classic Infantile Pompe

Pompe Disease News

Patients with classic infantile-onset Pompe disease could benefit from increased dosing of Myozyme (alglucosidase alfa), an enzyme replacement therapy (ERT) marketed as Lumizyme in the U.S., according to a real-world ... Read more

December 28, 2021December 28, 2021

Severe Impairments Seen in Diaphragm Motion, Study Shows

Pompe Disease News

Pompe disease patients show severe impairments in diaphragm motion, the major muscle of respiration, when compared with those who have other muscle disorders or motor neuron diseases, a small study ... Read more

December 21, 2021December 21, 2021

Gene Therapy Potentially Better Than ERT for Pompe, Study Shows

Pompe Disease News

Gene therapy given with chaperones — specific molecules known to stabilize the structure of proteins — was found to enhance the availability of acid alpha-glucosidase, known as GAA, the missing ... Read more

December 14, 2021December 14, 2021

L-carnitine Supplements May Help Augment Enzyme Replacement Therapy

Pompe Disease News

L-carnitine — a molecule often taken as an oral dietary supplement — boosts the efficacy of enzyme replacement therapy (ERT), increasing by four times the activity of acid alpha-glucosidase (GAA), ... Read more

December 7, 2021December 7, 2021

Applications for AT-GAA Under Review in Europe

Pompe Disease News

The European Medicines Agency has accepted applications from Amicus Therapeutics seeking approval of AT-GAA, a two-component investigational therapy for the treatment of Pompe disease. “The acceptance of these filings is an ... Read more

November 30, 2021December 1, 2021

Lung Function Reduced in LOPD Despite Long-term Myozyme Use

Pompe Disease News

Despite treatment for years with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — people with late-onset Pompe disease (LOPD) still develop airway abnormalities and experience reduced lung function, ... Read more

November 23, 2021November 24, 2021

Antioxidants Help ERT Efficacy in Pompe, Early Study Suggests

Pompe Disease News

Antioxidants can increase the effectiveness of enzyme replacement therapy (ERT) for Pompe disease caused by oxidative stress, the damage in cells or tissues by reactive oxygen molecules, according to a ... Read more

November 16, 2021November 16, 2021

Nexviazyme Approved in Canada as Next-gen ERT for Late-onset Pompe

Pompe Disease News

Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy, has been approved by Health Canada for people with late-onset Pompe disease ages 6 months and older. “The Health Canada approval of ... Read more

November 9, 2021November 9, 2021

LOPD in Undiagnosed Patients Estimated at 1% in US and Canada

Pompe Disease News

The prevalence of late-onset Pompe disease (LOPD) in people across the U.S. and in Montreal, Canada, who lack an official diagnosis but have its characteristic neuromuscular symptoms — including neck and ... Read more

November 2, 2021November 2, 2021

Fatigue Called Most Disabling LOPD Symptom in Patient Interviews

Pompe Disease News

Fatigue, pain, muscle weakness, and breathing difficulties are the most common and highly disabling symptoms of late-onset Pompe disease (LOPD), according to a study that combined data collected from published ... Read more

October 28, 2021October 28, 2021

All Wheels Up Brings Wheelchair-accessible Planes One Step Closer

Pompe Disease News

Flying can be an ordeal for many people with disabilities who rely on wheelchairs to get from point A to point B. Sometimes disabled travelers get to their destination only ... Read more

October 26, 2021October 26, 2021

CPAP Training May Help Children Improve Speech, Small Study Shows

Pompe Disease News

Training with continuous positive airway pressure therapy, known as CPAP, may help to normalize speech abnormalities in children with Pompe disease, a small pilot study shows. Certain outcomes, including the ... Read more

October 19, 2021October 19, 2021

Global Genes, Diversity Coalition Team Up to Advance Health Equity

Pompe Disease News

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, ... Read more

October 14, 2021October 14, 2021

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

COVID-19 News, Pompe Disease News

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC ... Read more