Pompe disease, an inherited lysosomal storage disorder, is much more common than once thought, say several experts speaking at the Muscular Dystrophy Association’s recent 2019 MDA Clinical and Scientific Conference in Orlando, Florida. For years, the incidence of Pompe was believed to be anywhere from 1 in…
gene therapy
The first patient has been dosed in a Phase 1/2 clinical trial evaluating the safety and effects of ACTUS-101, a potential one-time gene therapy for late-onset Pompe disease developed by Actus Therapeutics. The randomized, open-label trial (NCT03533673) is still recruiting for an estimated total of six participants.
On a Friday the 13th some 20 years ago, 15-month-old Megan Crowley was diagnosed with Pompe disease. A few weeks later, so was her newborn brother, Patrick. Even the doctor who diagnosed the two children didn’t know much about the disease. Before that March day in 1998, he had…
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…
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…
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…
Gene therapy, using an improved version of a virus as a delivery vehicle, greatly improved muscle and respiratory function in a mouse model of Pompe disease. The study, “Systemic delivery of AAVB1-GAA clears glycogen and prolongs survival in a mouse model of Pompe disease,” was published in…
A neuron-specific gene therapy treatment improved motor coordination in a mouse model of Pompe disease and highlights the role that neuronal dysfunction plays in this disease. The study, “A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice,” was published in the journal Molecular…
Duke Health researchers are planning to launch a Phase 1 trial to test the safety of a new investigational gene therapy they developed to treat patients with Pompe disease. They are currently screening (NCT03285126) adults with late-onset Pompe disease to select eligible participants for the upcoming trial.