Marisa Wexler, MS, senior science writer —

A Phase 1/2 trial is recruiting adults in the U.S. who have late-onset Pompe disease to test a gene therapy, AT845, being developed by Audentes Therapeutics, according to an update from the Muscular Dystrophy Association. The company-sponsored FORTIS trial (NCT04174105) will be evaluating the safety…

Miglustat — a component of AT-GAA, an investigational therapy for late-onset Pompe disease (PD) — enhances the activity of the other component in AT-GAA, cipaglucosidase alfa, researchers report. These findings were presented at the 2021 MDA Virtual Clinical & Scientific Conference, in the poster “Enhancing Delivery…

At a recent webinar, experts cautioned that it could be dangerous for people with Pompe disease to stop treatment due to the COVID-19 pandemic. The disease that would come to be called COVID-19 was first reported in the U.S. more than a year ago. As it spread across…

Treatment with AT-GAA, an investigational therapy for late-onset Pompe disease, led to improvements in measures of physical and lung function in the Phase 3 clinical trial PROPEL, top-line data show. “Data from the PROPEL study demonstrate the potential to further improve motor and respiratory functions in patients with Pompe…

Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. The report, “Nystagmus in Infantile Pompe Disease: a new feature?” was published in the journal Acta Bio Medica. Pompe…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

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 good biomarker for glycogenoses type II and III? A study of the French cohort,” was published…

Urinary levels of a proposed Pompe disease biomarker known as Glc4 are higher in patients with either infantile-onset or late-onset forms of this disorder compared to healthy individuals in the Turkish population, a study shows. As Glc4 (or glucose tetrasaccharide) levels vary with age, identifying appropriate reference…

The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the importance of screening for early detection of the rare genetic disorder. A sensitive and inexpensive screening system could improve the prognosis of infants with Pompe disease (PD), the researchers…