Posts by: Jose Marques Lopes, PhD

News

Patients with late-onset Pompe disease (LOPD) should be followed regularly and start on enzyme replacement therapy (ERT) if they develop symptoms, according to an analysis of available guidelines. The ... Read more

July 17, 2019July 17, 2019

Extended Database Links Pompe Mutations to Predicted Clinical Severity

News

A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict outcomes. The study, “Extension of ... Read more

April 3, 2019April 3, 2019

Failed Activation of Satellite Cells Underlies Deficient Muscle Repair in Pompe Disease, Mouse Study Suggests

News

Muscle repair in Pompe disease is compromised by failed activation of muscle cells’ precursors called satellite cells (SCs), according to a study of mice. The study, “Satellite cells fail ... Read more

March 20, 2019March 20, 2019

Growth Factor Levels May Help Track Progression of Adult-onset Pompe Disease, Study Suggests

News

Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to differentiate between patients with adult-onset Pompe disease and those without the disease, and between patients with ... Read more

February 20, 2019February 20, 2019

Late-onset Pompe Patient Gave Birth Twice to Healthy Infants While on Lumizyme, Case Study Reports

News

A woman with late-onset Pompe disease went through two successful pregnancies and births while continuing treatment with Lumizyme (alglucosidase alfa), a case study reports. The woman, however, chose not ... Read more

January 9, 2019January 9, 2019

Audentes Therapeutics Plans to File Investigational New Drug Application for Potential Pompe Disease Gene Therapy This Year

News

Audentes Therapeutics plans to submit an investigational new drug (IND) application for its Pompe disease gene therapy AT845 this year. In a recent update, Audentes, a biotech company, discussed ... Read more

December 5, 2018December 5, 2018

Early, Higher Myozyme Dose Effective in Boy With Classic Infantile-onset Pompe, Study Reports

News

Early treatment with a four times higher dose of Myozyme (alglucosidase alpha) was safe and enabled normal motor development and normalization of markers of muscle damage and disease progression in ... Read more

May 2, 2018May 2, 2018

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports

News

Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of ... Read more