Weekly Spotlight - 31.10.24

Community

We want to hear your story!

Fill in the form to share your experiences and any challenges you’ve faced living with your condition, for a chance to be featured in one of our weekly newsletters!

In the News

Jefferson City Family Faces Uncertainty Over Son's Pompe Drug Coverage

The Dudenhoeffer family in Jefferson City faces a challenging situation regarding their son's costly Pompe disease medication, which may not be covered under a new insurance plan. Despite efforts by the city to balance budgets, the family is concerned about potential loss of coverage. Meghan Dudenhoeffer is actively seeking support and solutions to address this issue.

Aro Biotherapeutics Begins Phase 1b Trial for Pompe Disease Treatment

Aro Biotherapeutics is advancing the field with ABX1100, a novel therapy for late-onset Pompe disease. This Phase 1b trial aims to target muscle glycogen accumulation using siRNA technology. Following promising results from Phase 1a, the company is now enrolling patients for the next stage of the trial, which may represent a significant advancement beyond traditional enzyme replacement therapy.

Extracellular Vesicle Biomarkers in Pompe Disease Research

In a recent study, researchers investigated exosomes in a Pompe disease mouse model, uncovering potential biomarkers for disease monitoring. By analyzing miRNA and protein levels in urine and blood samples, they identified notable differences that may provide new insights into therapeutic approaches. This research offers a valuable glimpse into the microscopic landscape of Pompe disease.

Social Media Enhances Rare Disease Clinical Trial Recruitment

Social media is transforming recruitment for rare disease clinical trials, according to the CEO of Andarix. By effectively targeting motivated patients, response rates have increased to 40%. However, it is essential to be vigilant about misinformation. Patient registries such as NORD and CoRDS also play a critical role in this process. Thus, social media serves as both a valuable tool and a potential source of challenges in rare disease research.