News

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

A large-scale analysis of the proteins and lipids found in the blood of people with Pompe disease showed significant changes involving inflammatory responses and the suppression of cellular processes such as immune function and lipid metabolism, a study reported. These findings…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

A chest MRI can be used to detect early signs of respiratory muscle weakness in people with Pompe disease, even when lung function is still within a normal range, a study reported. According to its investigators, the findings highlight the importance of these imaging tests to rapidly identify patients…

Newly developed nerve cells derived from patients could be used as a model to study neurological involvement in Pompe disease and test potential therapies, a study reports. Notably, data from these models suggested that a combination of two molecules, which was previously shown to have beneficial effects in models of…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe disease (LOPD). These findings highlight the potential of drug repurposing for the development of new therapies for LOPD,…

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a study suggests. Selected outcomes, part of the Patient-Reported Outcomes Measurement Information System (PROMIS), were found to represent the…

A CRISPR gene-editing approach was used to correct two distinct Pompe disease mutations and to develop computer simulations for optimizing gene therapies. These computer models may help scientists develop and test gene-editing strategies for diseases, such as Pompe, that are polygenic, or caused by more…