clinical trials

A Phase 1/2 clinical trial is recruiting adults with late-onset Pompe disease to test Audentes Therapeutics‘ investigational gene therapy AT845, the company has announced. The trial (NCT04174105) will be conducted at clinical sites in the U.S., Germany, and the U.K. It aims to recruit up to…

The Muscular Dystrophy Association (MDA) held its first externally led Patient-Focused Drug Development (PFDD) meeting on Pompe disease earlier this week.  The July 13 virtual PFDD meeting allowed Pompe patients and…

Avalglucosidase alfa, an investigational next-generation enzyme replacement therapy (ERT), leads to clinically meaningful improvements in respiratory muscle strength and mobility in children and adults with late-onset Pompe disease (LOPD), according to top-line data from a Phase 3 trial. The findings will be the foundation for applications that…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

If your child has Pompe disease, you may consider enrolling them in the ongoing Pompe disease registry.  Among other things, the information that researchers collect through this registry is likely to help them better understand and treat inherited metabolic disorders like…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

When used in combination with enzyme replacement therapy, albuterol improves lung and motor function in patients with late-onset Pompe disease (LOPD), a Phase 1/2 trial showed. Trial findings were reported in the study, “Improved muscle function in a phase I/II clinical trial of albuterol…

Sanofi Genzyme’s next-generation enzyme replacement therapy (ERT), avalglucosidase alfa, safely halts disease progression in people with Pompe disease, according to interim data from two Phase 2 clinical trials. The trial’s results were the focus of oral and poster presentations at the 16th Annual WORLDSymposium, held…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…