Pompe Disease News

August 5, 2020August 6, 2020

Phase 1/2 Trial of Gene Therapy AT845 Recruiting Patients With Late-onset Pompe

Pompe Disease News

A Phase 1/2 clinical trial is recruiting adults with late-onset Pompe disease to test Audentes Therapeutics‘ investigational gene therapy AT845, the company has announced. The trial (NCT04174105) will be conducted at ... Read more

July 22, 2020July 22, 2020

European Study: Myozyme Improves Walking, Respiratory Function in Adults With Pompe

Pompe Disease News

Treatment with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S.) improves walking ability and may stabilize respiratory function in adults with Pompe disease during the first three years of treatment, according to a recent ... Read more

July 16, 2020July 17, 2020

MDA’s Virtual Drug Development Meeting Brings Together Pompe Patients, Industry

COVID-19 News, Pompe Disease News

The Muscular Dystrophy Association (MDA) held its first externally led Patient-Focused Drug Development (PFDD) meeting on Pompe disease earlier this week. The July 13 virtual PFDD meeting allowed Pompe patients ... Read more

July 10, 2020July 11, 2020

National Survey Seeks to Assess Full Social, Economic Burdens of Rare Diseases in US

Pompe Disease News

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in ... Read more

July 8, 2020July 8, 2020

Stem Cell Gene Therapy Restores Glycogen Levels, Aids Movement in Mouse Study

Pompe Disease News

Transplanting blood stem cells modified to carry the GAA gene raised glycogen levels almost to normal across a range of organs, including the brain, and improved locomotion in a mouse model of Pompe ... Read more

July 1, 2020July 2, 2020

Myozyme at Higher Dose More Effective for Classic Infantile Pompe, Study Says

Pompe Disease News

Children with classic infantile Pompe disease on higher and more frequent doses of Myozyme (alglucosidase alfa) live longer without needing respiratory support, and have better motor outcomes, than those who ... Read more

June 24, 2020June 24, 2020

Glc4 Is Potential Biomarker of Pompe Disease

Pompe Disease News

Measuring the urinary levels of a particular sugar molecule called tetraglucose (Glc4) could be useful for diagnosing Pompe disease, a study from France suggests. The study, “Urine glucose tetrasaccharide: A ... Read more

June 22, 2020July 23, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

COVID-19 News, Pompe Disease News

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support ... Read more

June 17, 2020June 17, 2020

Avalglucosidase Alfa Improves Breathing, Mobility in Late-onset Patients in Phase 3 Trial

Pompe Disease News

Avalglucosidase alfa, an investigational next-generation enzyme replacement therapy (ERT), leads to clinically meaningful improvements in respiratory muscle strength and mobility in children and adults with late-onset Pompe disease (LOPD), according to ... Read more

June 9, 2020July 11, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

COVID-19 News, Pompe Disease News

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for ... Read more

May 29, 2020June 30, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

COVID-19 News, Pompe Disease News

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies ... Read more

May 28, 2020May 29, 2020

Lumizyme-Myozyme Given Early and at Higher Dose May Be Best for Infantile-onset Pompe

Pompe Disease News

When administered early and above its recommended dose, Myozyme (alglucosidase alfa, known as Lumizyme in the U.S.) may improve the clinical outcomes and prognosis of people with infantile-onset Pompe disease ... Read more

May 25, 2020June 25, 2020

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Pompe Disease News

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was ... Read more

May 22, 2020June 22, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

COVID-19 News, Pompe Disease News

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, ... Read more

May 21, 2020May 21, 2020

Plant-based ERT May Hold Promise in Pompe Disease, Small Study Suggests

Pompe Disease News

A moss-derived type of enzyme replacement therapy (ERT) for Pompe disease may be more effective than the currently approved ERT in targeting muscle cells, according to a small study. Since the ... Read more