Weekly Spotlight - 17.10.24

In the News

2025 Research Grants Open for Groundbreaking Muscle Wasting Studies

The 2025 research grant round is now open for UK researchers, focusing on innovative studies in muscle wasting conditions. This initiative aims to advance understanding and develop new treatments, building on significant progress made over the past decade. Researchers are encouraged to apply for funding to drive future breakthroughs.

Pompe Disease Treatment Options: Current and Experimental Approaches

Pompe disease, caused by GAA enzyme dysfunction, leads to glycogen buildup in cells. Enzyme replacement therapy (ERT) is the primary treatment, with Lumizyme and Nexviazyme approved. Supportive therapies include physical, speech, and respiratory therapy. Experimental treatments like gene therapy are under investigation, but no cure exists yet.

Pompe Disease Treatment Shows Promising Efficacy in Recent Study

The PROPEL study revealed that switching to cipaglucosidase alfa-miglustat therapy improved efficacy outcomes in late-onset Pompe disease patients compared to alglucosidase alfa. This FDA-approved treatment showed significant enhancements in motor and lung function, muscle strength, and quality of life, offering a promising option for affected individuals.

Pompe Children Show Resilience Despite Physical Challenges, Study Finds

A study in Europe found that most children with Pompe disease report good emotional well-being despite physical disabilities and social impacts. Frequent enzyme replacement therapy (ERT) sessions are burdensome. Tailored clinical approaches and at-home ERT can alleviate these challenges, highlighting the need for supportive care strategies.

Oxford-Harrington Rare Disease Centre

David Cameron: Britain's Role in Advancing Rare Disease Treatments

David Cameron's article in The Times highlights Britain's potential to lead in treating rare diseases through genomics. Inspired by personal tragedy, Cameron reflects on the loss of his son Ivan to Ohtahara syndrome, a rare condition. He notes the rapid advancements in genomics since the early 2000s, when sequencing a genome was costly and time-consuming. Today, it is affordable and quick, enabling personalised medicine. Cameron's 100,000 Genomes Project marked a significant step in this field, and now, Genomics England and the NHS plan to sequence 100,000 newborns' genomes to identify rare diseases.

Cameron announces his role as chair of the Oxford-Harrington Rare Disease Centre's advisory council, a partnership aiming to develop 40 new treatments for rare diseases in the next decade. He emphasises Britain's strengths: a history of DNA research, a national health system, and a robust venture capital industry. Coupled with US expertise, this partnership is poised for breakthroughs in genomics.

The implications are vast. Genomics can help millions globally, as 80% of rare diseases have a genetic basis. Understanding one condition can unlock insights into others, including common killers like cancer and heart disease. Gene therapy, where Britain excels, offers potential to correct genetic defects, lessening or reversing conditions.