News

Lower activity of the two lysosomal enzymes underlying Pompe and Fabry diseases — acid alpha-glucosidase enzyme (GAA) and alpha-galactosidase A (GLA) — is linked to dilated arteries in the brain, a preliminary study reports. The study, “Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation,” was…

Long-term interruption of enzyme replacement therapy (ERT) can lead to negative outcomes for late-onset Pompe disease patients, affecting their lung and exercise capacity as well as quality of life, a Swiss retrospective study shows. However, for most patients, resuming ERT can help restore the key clinical parameters that deteriorated during the pause…

Sanofi Genzyme and PerkinElmer Genomics have launched the Lantern Project, a comprehensive genetic testing program that aims to overcome the barriers to diagnosing rare diseases, such as Pompe disease. Rare, inherited disorders can be quite challenging to diagnose because they often are mistaken for more common diseases,…

Low-dose treatment with methotrexate can reduce the immune reaction that often accompanies enzyme replacement therapies in infants with Pompe disease, researchers report. Their study, “An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe…

Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…

Spark Therapeutics has announced promising preclinical data from animal studies regarding its experimental gene therapy, SPK-3006, to treat Pompe disease. With these positive results, the company plans to conduct a Phase 1/2 clinical trial in 2019 evaluating the safety of SPK-3006 in adult Pompe patients. The preclinical data were…

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

Newborn screening for lysosomal storage disorders, including Pompe disease, is much more likely to detect individuals at risk for late-onset disease, according to a four-fear analysis of data from a pilot newborn screening program. The study “The New York pilot newborn screening program for lysosomal storage diseases: Report of the…

Amicus Therapeutics is planning to launch a pivotal trial to compare its investigational therapy AT-GAA (ATB200/AT221) to the current standard of care available for patients with Pompe disease. The new trial is expected to provide additional clinical data to support Accelerated Approval for AT-GAA by the U.S.

Newborn screening seems better at identifying Pompe disease cases than a clinical examination, especially for classic infantile-onset Pompe disease, according to researchers. Their study, “Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease,” was published in the journal Medical Decision Making Policy & Practice. Screening…