Pompe Disease News

April 6, 2021April 6, 2021

Upcoming International Pompe Day Aims to Raise Awareness

Pompe Disease News

In an effort to raise public awareness and increase understanding of Pompe disease, the 8th Annual International Pompe Day will be celebrated on April 15. This year’s theme is “Pompe ... Read more

March 31, 2021March 31, 2021

Cost of Rare Diseases in US? Nearly $1 Trillion in 2019, EveryLife Foundation Finds

Pompe Disease News

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of ... Read more

March 30, 2021March 30, 2021

Maze Therapeutics Aims to Bring Oral Pompe Therapy Into Clinical Testing

Pompe Disease News

Maze Therapeutics announced its first three lead therapeutic candidates, including an investigational oral medication designed to treat Pompe disease. Pompe disease is caused by genetic mutations that make the body unable ... Read more

March 23, 2021March 23, 2021

Gene Therapy Trial Recruiting Adults with Late-onset Pompe in US

Pompe Disease News

A Phase 1/2 trial is recruiting adults in the U.S. who have late-onset Pompe disease to test a gene therapy, AT845, being developed by Audentes Therapeutics, according to an update ... Read more

March 16, 2021March 16, 2021

#MDA2021 — Miglustat’s Role in AT-GAA as Possible Therapy Described

Pompe Disease News

Miglustat — a component of AT-GAA, an investigational therapy for late-onset Pompe disease (PD) — enhances the activity of the other component in AT-GAA, cipaglucosidase alfa, researchers report. These findings were ... Read more

March 10, 2021March 10, 2021

Experts Warn Against Interrupting Pompe Treatment During Pandemic

COVID-19 News, Pompe Disease News

At a recent webinar, experts cautioned that it could be dangerous for people with Pompe disease to stop treatment due to the COVID-19 pandemic. The disease that would come to ... Read more

March 5, 2021March 5, 2021

Pink, Green, Blue and Purple Lights Illuminated World for Rare Disease Day

COVID-19 News, Pompe Disease News

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, ... Read more

March 3, 2021March 3, 2021

Myozyme Effectiveness in LOPD Fades Over Time, Real-world Study Finds

Pompe Disease News

In the first years of treatment, Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — can effectively increase physical endurance, and improve lung function and muscle strength in adults ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

COVID-19 News, Pompe Disease News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 24, 2021February 24, 2021

Early ERT Key in Severe Classic Infantile Pompe

Pompe Disease News

Early treatment with enzyme replacement therapy (ERT) and immune tolerance induction (ITI) greatly improved clinical outcomes for infants with the severe, frequently ERT-nonresponsive, CRIM-negative infantile Pompe disease (IPD), a study has found. ... Read more

February 22, 2021February 22, 2021

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

COVID-19 News, Pompe Disease News

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a ... Read more

February 18, 2021February 18, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

Pompe Disease News

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare ... Read more

February 17, 2021February 17, 2021

Amicus Updates Data from AT-GAA Phase 3 PROPEL Trial

Pompe Disease News

Treatment with AT-GAA, an investigational therapy for late-onset Pompe disease, led to improvements in measures of physical and lung function in the Phase 3 clinical trial PROPEL, top-line data show. “Data ... Read more

February 10, 2021February 10, 2021

Pandemic Won’t Stop Rare Disease Day on Feb. 28

COVID-19 News, Pompe Disease News

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the ... Read more

February 3, 2021February 3, 2021

First Patient Dosed in Gene Therapy Trial for LOPD

COVID-19 News, Pompe Disease News

Spark Therapeutics has dosed the first patient in the Phase 1/2 RESOLUTE clinical trial of SPK-3006, an experimental gene therapy for people with late-onset Pompe disease (LOPD). “Dosing the first ... Read more