treatment

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…

Four cases of infantile-onset Pompe disease recently reported in Australia help shed light on some of the unique challenges care providers face in diagnosing and managing this genetic disease. Early recognition of the disease’s signs and prompt initiation of enzyme replacement therapy (ERT) are critical to ensuring the best patient outcome…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Treatment with enzyme replacement therapy can help children with classic infantile Pompe disease reach adulthood. However, it fails to prevent the long-term effects of the disease in the brain and consequent   development of intellectual disabilities, a study shows. The study titled “Classic infantile Pompe patients…

April 15 was International Pompe Day, and Amicus Therapeutics helped to raise awareness about the disease, as well as Fabry disease, by participating in several activities throughout the month, which also is designated Fabry Disease Awareness Month. Fabry disease is an inherited lysosomal storage disorder caused by deficiency of…

Interim results a from Phase 1/2 clinical trial support the therapeutic benefits of investigational therapy combination ATB200/AT2221 in patients with Pompe disease. Participants in the study showed improvements in motor and respiratory function. The therapy also resulted in a durable decrease of muscle damage biomarkers. These results will be presented…

The biotech companies Shire and NanoMedSyn have launched a new research partnership to evaluate a potential treatment for lysosomal storage disorders including Pompe disease. NanoMedSyn has developed an enzyme replacement therapy using proprietary technology called AMFA that was shown in preclinical models to have promising biological activity.

Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism and restore shortened lifespans, can open the opportunity for human clinical trials on innovative therapies for these…