Amicus Therapeutics announced that it has entered into a manufacturing agreement with Paragon Bioservices to drive the development of technologies, including gene therapies, now in preclinical testing for the treatment of rare genetic disorders like Pompe disease. These include a series of lysosomal disorder programs, jointly developed by Paragon (now…

Salmeterol, a vasodilator approved for the treatment of asthma and chronic obstructive pulmonary disease (COPD), has shown potential to improve the effectiveness  of gene therapy for Pompe disease. Studies in mice demonstrated that administering salmeterol as an add-on treatment to gene therapy can significantly reduce the amount…

Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have expanded their research collaboration to develop new gene therapies for Pompe disease as well as other rare genetic diseases, the company announced. Encouraged by the success of an ongoing collaboration,…

Amicus Therapeutics announced positive preclinical data showing that its investigational gene therapy for Pompe disease is effectively delivered and leads to significant glycogen reduction at key tissues in mice, including the brain and spinal cord.

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

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…

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…