Weekly Spotlight - 03.10.24

In the News

Living Well with Friedreich's Ataxia: Essential Tips for Daily Life

Living with Friedreich's ataxia (FA) can be challenging, but self-advocacy and self-care are crucial. Establishing a reliable routine helps manage energy and maintain healthy habits. Regularly seeing your care team and keeping a symptom diary can aid in tracking changes and addressing issues promptly.

Emotional well-being is equally important. Practising mindfulness, joining support groups, and maintaining an active social life can help. Engaging in new hobbies or adapting old ones can provide a sense of purpose. Open communication with your care team and loved ones ensures you receive the support you need.

Assistive Equipment for Managing Friedreich's Ataxia

Friedreich's ataxia (FA) is a rare genetic condition that affects the nervous system, leading to decreased muscle coordination, strength, and sensation. As the disease progresses, mobility aids like canes, walkers, and wheelchairs become essential. Dr. Ilia Itin emphasises the importance of choosing the right equipment to maintain independence and prevent injuries.

Common mobility aids include canes for balance, walkers for stability, and wheelchairs for severe mobility issues. Adaptive clothing and home modifications, such as handrails and stairlifts, can also enhance daily living. Consulting with healthcare providers ensures the best fit for individual needs, helping to manage FA's symptoms effectively.

Stealth BioTherapeutics Receives Grant for Mitochondrial Therapy Development

Stealth BioTherapeutics has received the Kyle Bryant Translational Research Award from the Friedreich's Ataxia Research Alliance (FARA) to develop SBT-589, a promising mitochondrial therapeutic for Friedreich's ataxia (FA). This preclinical study will assess SBT-589's impact on neurological and biochemical aspects of FA in a transgenic mouse model, with co-treatment involving omaveloxolone. The study aims to inform the development of SBT-589 for FA neuropathy.

SBT-589 targets mitochondrial dysfunction, improving bioenergetics and reducing oxidative stress. The collaboration with FARA highlights the community's collective effort to advance FA treatments. Stealth BioTherapeutics' diverse pipeline aims to improve cellular energy production and address rare diseases.

Exercise Benefits for Friedreich's Ataxia Patients

Caring for someone with Friedreich's ataxia (FA) involves understanding the condition's gradual progression and adapting to changing needs. Dr. Odinachi Oguh emphasises the importance of open communication, patience, and knowing when to seek help. Caregivers should resist the urge to do everything for their loved ones, instead fostering independence to support mental health.

FA impacts balance, mobility, and muscle strength, increasing the risk of falls and choking. Caregivers should be proactive in making home modifications and learning first aid techniques. Utilising resources like social workers, support groups, and respite care can provide essential assistance. Self-care is crucial for caregivers to maintain their well-being and effectively support their loved ones.

Empowering Voices: Speech Therapy at the London Ataxia Centre

Lucie Hogger, a Speech and Language Therapist at the London Ataxia Centre, discusses her role and the services offered. She has been working there since August 2023, focusing on outpatient neurology and group therapy for ataxic dysarthria. The group sessions, held online, aim to improve speech through exercises and social participation.

The group-based approach helps build confidence in communication, especially for those who have avoided social interactions. Participants practise at home and receive peer feedback, enhancing their speech and social skills. Lucie emphasises the importance of seeking speech therapy early and encourages those with ataxia to contact their GP or local speech therapists for support.

Support Strategies for Friedreich's Ataxia Caregivers

If you have Friedreich's ataxia (FA), maintaining a balanced diet is crucial. Dr. Ilia Itin recommends a diet rich in fruits, vegetables, whole grains, and lean proteins. This can help manage weight, reduce joint stress, and improve energy and mental health. While specific supplements like vitamin B3 and coenzyme Q10 are still under research, a daily multivitamin may be beneficial.

As FA progresses, dietary adjustments may be necessary, especially if swallowing difficulties arise. Consulting healthcare providers and specialists can help tailor a suitable diet. Although diet alone won't prevent heart issues or diabetes associated with FA, eating healthily remains essential for overall well-being. Dr. Itin emphasises that good nutrition is key to managing the challenges of FA.

Nutritional Guidance for Living with Friedreich's Ataxia

If you have Friedreich's ataxia (FA), maintaining a balanced diet is crucial. Dr. Ilia Itin recommends a diet rich in fruits, vegetables, whole grains, and lean proteins. This can help manage weight, reduce joint stress, and improve energy and mental health. While specific supplements like vitamin B3 and coenzyme Q10 are still under research, a daily multivitamin may be beneficial.

As FA progresses, dietary adjustments may be necessary, especially if swallowing difficulties arise. Consulting healthcare providers and specialists can help tailor a suitable diet. Although diet alone won't prevent heart issues or diabetes associated with FA, eating healthily remains essential for overall well-being. Dr. Itin emphasises that good nutrition is key to managing the challenges of FA.

TUG1: A Promising Biomarker for Friedreich's Ataxia

Friedreich's ataxia, a debilitating neurodegenerative disorder, lacks reliable biomarkers, complicating diagnosis and treatment. This study identifies TUG1, a long non-coding RNA, as a promising blood-based biomarker. TUG1 levels were consistently downregulated in patients, correlating with disease severity and frataxin levels, suggesting its potential for early, non-invasive diagnosis.

The research involved comprehensive analysis of gene expression data from both human patients and a mouse model. TUG1's downregulation was validated in various tissues, highlighting its role in disease progression. This discovery could significantly enhance monitoring and therapeutic development for Friedreich's ataxia, offering hope for improved patient care and outcomes.