Research

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…

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…

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…

Perlara biotech is collaborating with the University of Notre Dame in Indiana and the Warren Family Research Center for Drug Discovery and Development to develop new treatments for glycogen storage disorders, including Pompe and Cori diseases. Pompe disease mainly causes muscle weakness, impaired gait, and muscle pain. The three types…

Clenbuterol as an add-on therapy appears to be safe and significantly improves the effectiveness of enzyme replacement therapy (ERT) in patients with late-onset Pompe disease, according to the results from a Phase 1/2 trial. The study, “Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase…

PerkinElmer announced that its in-vitro diagnostic (IVD) kit able to test newborns for the six most commonly screened lysosomal storage disorders (LSDs) has been approved by the U.S. Food and Drug Administration (FDA). The kit, the first commercialized using mass spectrometry instrumentation in the U.S., can screen for all six of…

Adding immunomodulatory medicines to enzyme replacement therapy (ERT) — Myozyme (alglucosidase alfa) — gives temporary but not long-term protection from antibodies that can block ERT’s effectiveness in patients with classic infantile Pompe disease. Better immunomodulatory regimens are needed to induce long-term…