Weekly Spotlight - 17.10.24

In the News

Dietary Strategies for Managing Fabry Disease Symptoms

Fabry disease, a rare genetic disorder, disrupts the body's ability to process globotriaosylceramide (Gb3), leading to its accumulation and affecting the heart, kidneys, and gastrointestinal system. This can result in symptoms like an enlarged heart and gastrointestinal distress. Managing these symptoms involves enzyme replacement therapy and dietary adjustments. A low-FODMAP diet, which limits hard-to-digest foods, can alleviate gastrointestinal issues. Patients are advised to avoid fatty, dairy, and acidic foods, and to consume smaller, more frequent meals to ease digestion. Supplements such as prebiotics, probiotics, and ginger may also support gut health.

Understanding the impact of Fabry disease on the gastrointestinal system is still evolving, with research suggesting that Gb3 accumulation affects blood flow and nerve function, potentially causing neuropathy and bacterial overgrowth. While Fabry disease does not increase the risk of conditions like celiac disease, managing its symptoms is crucial for quality of life. Experimentation with dietary changes, under professional guidance, can help identify effective strategies for symptom relief, highlighting the importance of personalised approaches in managing this complex condition.

Aprocitentan Data to be Unveiled at ASN Kidney Week 2024

Idorsia Pharmaceuticals Ltd is set to present new data on aprocitentan, a dual endothelin receptor antagonist, at the ASN Kidney Week 2024 in San Diego. The presentations will focus on the drug's efficacy in managing hypertension in patients with chronic kidney disease (CKD) stages 3 and 4, highlighting its positive impact on blood pressure and proteinuria without worsening renal function or causing hyperkalemia. This data stems from the PRECISION trial, which demonstrated promising results for patients whose hypertension is not adequately controlled by other medications.

In addition to aprocitentan, Idorsia will present findings from their Phase 3 programme on lucerastat, a glucosylceramide synthase inhibitor, for Fabry disease. Although lucerastat did not meet its primary endpoint in reducing neuropathic pain, it showed a significant reduction in plasma Gb3 levels, suggesting a potential positive effect on kidney function. These presentations underscore Idorsia's commitment to advancing therapeutic options for complex conditions, with a focus on scientific innovation and patient outcomes. The detailed findings will be published in the Journal of the American Society of Nephrology, providing further insights into these promising developments.

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.