Weekly Spotlight - 07.11.24

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In the News

Navigating work and school with Pompe disease

Navigating work and school with Pompe disease involves managing challenges like mobility issues and fatigue. Support is available through aides, workplace adaptations, and healthcare professionals. Personal stories highlight the importance of accommodations and legal protections, fostering a supportive environment for those affected by Pompe disease.

An important message to the parents of a newly diagnosed child

Keara Engle shares her journey as a parent of a child with Pompe disease, offering support to others facing similar challenges. She emphasises the initial loneliness and fear but highlights resilience and adaptation over time. Her message is one of hope, encouraging parents to embrace their unique journey.

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease

The European Reference Network for Metabolic Diseases (MetabERN) has developed clinical pathway recommendations for Pompe disease. These guidelines aim to standardise care across Europe, focusing on diagnosis, treatment, and follow-up. The recommendations are based on a systematic literature review and expert consensus, ensuring comprehensive and accessible care.

Phase 1b study of Pompe disease treatment seeks adults

Aro Biotherapeutics is recruiting adults with late-onset Pompe disease for a Phase 1b trial of ABX1100, a new treatment aiming to reduce glycogen production. This approach offers hope beyond enzyme replacement therapy. The trial, starting in Canada, seeks to improve safety and effectiveness for this underserved community.