Weekly Spotlight - 26.09.24

In The News

Revolutionizing Friedreich's Ataxia Treatment: A Novel Approach to Drug Delivery

Friedreich's ataxia (FA) is a rare, hereditary disorder that severely impacts coordination, balance, and speech due to a deficiency in the frataxin protein. Current treatments are limited, often failing to address the root causes or manage neurological symptoms effectively. However, a groundbreaking approach using diazoxide (DZX)-loaded solid lipid nanoparticles (SLNs) offers new hope. This innovative method, developed by researchers at the University of Bari, utilises microfluidic techniques to deliver DZX across the blood-brain barrier (BBB), showing promise in protecting FA patient-derived fibroblast cells from oxidative stress.

SLNs, composed of biocompatible lipids, encapsulate therapeutic compounds, protecting them from degradation and ensuring targeted delivery. This encapsulation enhances drug bioavailability and allows for controlled release, reducing dosing frequency and potential side effects. The small size of SLNs enables them to penetrate the BBB, reaching the central nervous system, which FA primarily affects. The study demonstrated that SLN-DZX significantly improved drug permeability and reduced oxidative stress in FA fibroblast cells, suggesting a potential revolution in FA treatment.

The advantages of SLN-DZX are manifold. By protecting diazoxide from degradation and improving its delivery to defective cells, this method could significantly enhance patient outcomes. The controlled release mechanism ensures sustained therapeutic effects, potentially transforming the quality of life for individuals with FA. While further studies and clinical trials are necessary, the potential benefits of this novel treatment strategy are compelling and worth pursuing. This innovative approach could pave the way for new treatments for neurological diseases, offering hope and improved care for those affected.

Eye Movement Abnormalities May Help Detect, Track FA Progression

Eye movement abnormalities in Friedreich’s ataxia (FA) patients may help in early diagnosis and tracking disease progression, according to a review study. Over 80% of patients exhibited core eye movement issues, such as saccadic intrusions and abnormal angular vestibulo-ocular reflex (aVOR). These findings suggest that eye movement tests could provide valuable insights into FA severity and progression. Researchers recommend standardised data collection and longitudinal studies for better understanding.

Travel Tips for People With Friedreich’s Ataxia

Travelling with Friedreich’s ataxia is possible with thorough preparation. Consult your doctor, research destinations, and pack essential medical items. Ensure accessibility, maintain routines, and take frequent breaks. Smart tech and travel insurance can provide additional safety. With careful planning, you can enjoy fulfilling travel experiences despite the condition.

The Challenge With CAR T? It’s Not the Drug, It’s the Delivery

CAR T-cell therapy, despite its promise, faces significant delivery challenges. A new review highlights the need for improved collaboration among stakeholders to address supply chain issues, regulatory hurdles, and reimbursement complexities. Enhanced coordination could make these life-saving treatments more accessible to patients worldwide.

Lexeo Therapeutics Reports Second Quarter 2024 Financial Results and Highlights

Lexeo Therapeutics reported positive interim data for LX2006 in treating Friedreich ataxia cardiomyopathy, showing no serious adverse events and sustained treatment effects. They are engaging with the FDA on surrogate endpoints. Financially, they have $175 million in cash, ensuring operations into 2027.

Kalen DeBoer’s Touching Support for Jalen Milroe’s Superfan With Friedreich’s Ataxia Disease

Kalen DeBoer, Alabama's head coach, introduced 10-year-old Susanna, battling Friedreich’s Ataxia, as a special 'teammate'. Susanna scored a touchdown with Jalen Milroe, capturing hearts online. DeBoer’s heartfelt gesture earned widespread praise, showcasing Alabama’s commitment to building character and community. Fans now crown Alabama as the No.1 team.

Digital Healthcare Breakthroughs

Digital NHS Health Check to be trialled via NHS App

The Government has announced a pilot for a digital NHS Health Check, set to begin in early 2025 in Norfolk, Medway, and Lambeth. This initiative will allow patients to complete health checks at home via the NHS App, with results automatically updated in their GP records. The digital check aims to complement the existing face-to-face program for adults aged 40 to 74.

Over 130,000 people will also access health checks at their workplaces. This program, which began on August 30, seeks to prevent diseases like stroke, kidney disease, heart disease, type 2 diabetes, and dementia. The Labour Government plans to deliver one million digital health checks in the first four years, emphasising prevention and easing NHS strain.

How Digital is Transforming Primary Care

Digital transformation in primary care has significantly impacted patient management and engagement. Dr. Tom Micklewright highlights the benefits of asynchronous communication tools, such as SMS-based messaging and online consultations, which have revolutionised patient interactions. The NHS App, despite some initial issues, empowers patients by providing access to medical records and enabling prescription orders, fostering greater patient responsibility and preparedness.

Looking ahead, automation and data-driven approaches are expected to further enhance primary care efficiency. Automating routine tasks and leveraging population-level data dashboards can streamline operations and better address the needs of high-resource patients. However, challenges remain, including knowledge gaps and the need for improved information sharing and best practice adoption among PCNs.

Research

Nomlabofusp for Friedreich’s Ataxia to be Tested in Children and Teens

Larimar Therapeutics will test nomlabofusp in children and teens with Friedreich’s ataxia by year-end. The study will start with 12-15 adolescents, followed by an open-label extension. The company aims for accelerated approval by 2025, supported by global studies and participation in the FDA’s START programme.

Identification and Characterisation of Pathogenic and Non-Pathogenic FGF14 Repeat Expansions

Researchers have identified and characterised pathogenic and non-pathogenic FGF14 repeat expansions, revealing that uninterrupted AAG expansions are significantly enriched in patients with cerebellar ataxia. This study suggests that SCA27B, a form of adult-onset ataxia, is a major overlooked cause, accounting for 23-31% of unsolved cases. The findings recommend re-evaluating pathogenic thresholds and integrating expansion sequencing into diagnostics.