News

Sarepta Therapeutics and Aldevron have entered into a long-term partnership focusing on the supply of DNA molecules, called plasmids, that serve as carriers for different gene therapies, the companies announced. Under their agreement, Aldevron guarantees to provide the plasmids needed for Sarepta’s ongoing gene therapy programs and any potential programs…

Patients with late-onset Pompe disease demonstrated a deterioration in voice quality over a period of three years, but early treatment may stop this progressive impairment, a study reports. The study, “Follow-up analysis of voice quality in patients with late-onset Pompe disease,” was published in the Orphanet Journal…

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 its portfolio of investigational gene therapies for rare diseases. “2018 was an outstanding year for Audentes,” Matthew…

Amicus Therapeutics has dosed the first patient in the Phase 3 PROPEL clinical trial that aims to compare investigational therapy AT-GAA (ATB200/AT221) to standard treatment in patients with late-onset Pompe disease. The trial (NCT03729362) is still recruiting patients. Throughout 2019, approximately 100 participants who have been previously…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Manifestations of Pompe disease — its suspected signs or symptoms — can mimic diagnostic findings of a rare type of amyloidosis, a case study reports. The report, “Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide,” was published in the journal, Case Reports…

A research team in Korea has developed a new method using rice to produce lab-made human acid alpha-glucosidase (GAA) for the treatment of Pompe disease. Their findings were published in the study, “N-glycan Remodeling Using Mannosidase Inhibitors to Increase High-mannose Glycans on Acid α-Glucosidase in Transgenic Rice…

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 a boy with classic infantile-onset Pompe disease, according to a study. The study, “Early…

Frequent inspiratory muscle training — a set of breathing exercises to strengthen the respiratory muscles making it easier to breathe — enhanced the breathing capacity of late-onset Pompe disease patients with insufficient respiratory function, a small pilot study has found. The study, “Safety and efficacy of short- and long-term…

Most patients with juvenile- and adult-onset Pompe disease have difficulties coughing that put them at an increased risk for respiratory problems, but few of them incorporate techniques of pulmonary hygiene into their daily routines, a small study suggests. The study, “Cough Effectiveness and Pulmonary Hygiene…