Weekly Spotlight - 03.10.24

In the News

Chiesi Launches Grant for Fabry and LSD Research

Chiesi Global Rare Diseases has unveiled the "Find For Rare" initiative, a research grant programme aimed at advancing our understanding of lysosomal storage disorders (LSDs) such as Fabry disease, alpha-mannosidosis, and cystinosis. This initiative invites researchers outside the Americas to apply for grants up to £50,000, with a total of £150,000 available. The focus is on innovative studies that delve into the mechanisms and progression of these disorders, excluding drug safety and efficacy trials. Applications are open until 31 October, with winners announced early next year.

The initiative is driven by the rare disease community's needs, aiming to foster new insights and personalised disease management strategies. An independent scientific board will review proposals, ensuring a fair and unbiased selection process. Christoph Wanner, MD, chair of the steering committee, expressed optimism about the potential for groundbreaking discoveries that could significantly improve patient care. This initiative underscores Chiesi's commitment to supporting scientific research and addressing the challenges posed by rare diseases.

Enzyme Replacement Therapy Reduces Inflammatory Proteins in Fabry Patients

Researchers in China found that Fabry disease patients have higher levels of inflammatory cytokines, which correlate with disease severity. Enzyme replacement therapy (ERT) for over six months reduced some cytokine levels. The study suggests that targeting the inflammatory pathway could be a promising therapeutic approach for Fabry disease.

FDA Grants Orphan Drug Status to Fabry Gene Therapy

The U.S. FDA has granted orphan drug status to AMT-191, a promising gene therapy developed by uniQure for Fabry disease. This designation, reserved for treatments targeting rare diseases affecting fewer than 200,000 people in the U.S., offers benefits like tax credits and market exclusivity. AMT-191, currently in a Phase 1/2 trial, uses a modified virus to deliver a healthy GLA gene to the liver, enabling the production of the crucial enzyme alpha-Gal A. This enzyme helps break down fats that otherwise accumulate due to Fabry disease, causing various symptoms.

The ongoing trial in Virginia involves up to 12 men receiving either a low or high dose of AMT-191. Participants will continue their usual enzyme replacement therapy until specific criteria are met. The study aims to assess the safety and tolerability of AMT-191, as well as its effectiveness by measuring alpha-Gal A levels. uniQure's Chief Medical Officer, Walid Abi-Saab, expressed optimism about the potential benefits of AMT-191, highlighting the need for innovative treatments given the limitations of current therapies. Initial data is expected in 2025, marking a hopeful step forward in Fabry disease treatment.

Mental Health Support for Individuals with Fabry Disease

Living with Fabry disease can feel like being on a roller coaster, with emotional ups and downs that can be overwhelming. Mental health is crucial, and recognising symptoms early is key. Up to 62% of those with Fabry disease experience depression, and 39% have generalised anxiety disorder. It's important to seek professional help if you notice excessive worrying, mood changes, or other concerning symptoms.

Support from friends and family is invaluable, but don't hesitate to consult a doctor for therapy or medication. Remember, your mental health matters. Creating a strategy and advocating for your health can empower you to manage Fabry disease effectively. For more resources, visit NAMI and learn about treatment options and coping strategies.

Understanding the Impact of Fabry Disease on Mental Health

Fabry disease, an inherited condition, affects multiple body systems and mental health. Symptoms include pain, kidney damage, gastrointestinal issues, heart problems, fatigue, and depression. Emotional wellbeing is crucial; managing physical symptoms daily can be taxing. Resources and community support are available to help those affected. Visit Rethinkfabry.com for more information