News

FDA to Decide on AT-GAA for Late-onset Pompe Around Mid-2022

The U.S. Food and Drug Administration (FDA) is reviewing applications from Amicus Therapeutics asking for the approval of AT-GAA as a treatment for late-onset Pompe disease (LOPD). Amicus initiated a rolling application for AT-GAA late last year, which allowed the company to submit portions of its application as…

‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.

New Data-sharing Program Aims to Speed Innovation in Rare Diseases

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

New Cell-specific ERT Shows Promise in Mouse Study

A new enzyme replacement therapy (ERT) targeting specific cell types boosts the delivery of acid alpha-glucosidase (GAA) — the enzyme missing or defective in Pompe disease patients — to muscle and heart cells, a study shows. Compared to standard ERT, the targeted approach by Regeneron Pharmaceuticals normalized the…

New Institute Aims to Leave No Rare Disease Patient Behind

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

Group Focuses on Rare Disease Clinical Trial Participation

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

Early ERT Use May Lessen Hearing Loss in Infantile-onset Pompe

Starting treatment with enzyme-replacement therapy (ERT) in the first days of life appears to lessen the risk of hearing impairments in children with infantile-onset Pompe disease (IOPD), researchers report. “Our study may enhance awareness of early intervention before hearing-related morbidities can develop in patients with IOPD,” its researchers…