Weekly Spotlight - 10.10.24

In the News

SMA Linked to Brain Abnormalities in MRI Study, Researchers Discover

Recent research from McGill University has revealed significant brain abnormalities in individuals with spinal muscular atrophy (SMA), as observed through MRI scans. The study found that these abnormalities are seven times more prevalent in SMA patients compared to those without the disease. Notably, individuals with more severe forms of SMA, such as type 1 and those with fewer SMN2 gene copies, exhibited the highest rates of these structural changes. The findings suggest a potential involvement of the brain in SMA, which could influence future treatment strategies.

 The study, published in Neurology Genetics, involved 21 SMA patients and an equal number of age- and sex-matched controls. Among the SMA group, 43% displayed macrostructural brain abnormalities, with common features including enlarged brain ventricles and widened arachnoid spaces. These changes were more frequent in patients with severe SMA, indicating a possible link between reduced SMN protein levels during early brain development and structural brain alterations. While the study's small size limits its conclusions, it underscores the need for further research to explore the relationship between motor dysfunction, treatment, and brain structure in SMA.

 Higher Dose Nusinersen Shows Promise in SMA Treatment Study

 The recent findings from the DEVOTE study underscore the potential benefits of a higher dose regimen of nusinersen for individuals with spinal muscular atrophy (SMA). This investigational regimen, involving a rapid loading phase and a higher maintenance dose, has demonstrated significant improvements in motor function, particularly in treatment-naïve infants. The study revealed that the higher dose regimen not only slowed neurodegeneration more rapidly but also maintained a safety profile comparable to the existing 12 mg regimen.

These results, presented at the World Muscle Society Congress, highlight the promise of addressing unmet needs in SMA treatment. Biogen's plans to submit regulatory applications globally for the 50/28 mg nusinersen regimen reflect the potential for meaningful advancements in SMA care. The DEVOTE study's findings suggest that this higher dose could enhance motor function and daily living activities for those affected by SMA. As nusinersen is already commercialised in over 71 countries under the brand name SPINRAZA, the introduction of a higher dose regimen could mark a significant step forward in improving the quality of life for individuals with SMA.

 Scoliosis Risk Factors in Spinal Muscular Atrophy Explored

 Disease-modifying treatments (DMAs) have shown promise in reducing scoliosis risk in children with spinal muscular atrophy (SMA), a condition often accompanied by truncal muscle weakness. A recent study highlighted that scoliosis risk is significantly influenced by the type of SMA, with type III patients having the lowest risk and type II patients developing scoliosis later than those with type I. The study also identified gross motor function as a critical factor, with an HFMS score above 23 serving as a protective measure against scoliosis.

 Interestingly, the number of SMN2 gene copies did not correlate with scoliosis risk, challenging previous assumptions. The study, conducted over nearly a decade, underscores the protective role of DMAs in scoliosis development, suggesting they may delay its onset. Despite the small sample size and the fact that only 27% of patients received DMA treatment before scoliosis onset, the findings offer valuable insights for early detection and management strategies.

 Vietnamese Baby's Rare Disease Treatment Success in Shanghai Hospital

 The Children's Hospital of Fudan University has successfully treated a Vietnamese infant diagnosed with spinal muscular atrophy (SMA) type 1, a severe and rare genetic disorder. The baby, who exhibited symptoms such as limb weakness and respiratory difficulties, was swiftly admitted to the hospital following her parents' urgent plea for help. Upon arrival, a multidisciplinary team devised an individualised treatment plan, addressing complications like severe pneumonia and respiratory failure.

The infant's condition improved significantly, regaining self-respiration and limb mobility, marking a milestone in international medical collaboration and rare disease treatment. This case underscores the hospital's leadership in spinal muscular atrophy research and treatment, highlighting its role in advancing gene therapy and establishing a nationwide network for SMA diagnosis and care.

 Understanding Spinal Muscular Atrophy: Types, Challenges, and Care Strategies

 Spinal Muscular Atrophy (SMA) is a genetic disorder that significantly impacts motor neurons in the spinal cord, leading to muscle weakness and atrophy. The progression of SMA varies by type, with Type 1 being the most severe, often requiring early respiratory support. Understanding the disease's progression is crucial for managing the condition effectively.

Early diagnosis and a multidisciplinary approach, involving specialists such as neurologists and physical therapists, are essential for optimising the quality of life for those affected. This comprehensive care addresses physical, nutritional, and emotional needs, aiming to extend life and enhance daily living.

 Fresno Infant with Rare Disease Shows Remarkable Progress Against Odds

 The story of the Lazaro family in Fresno highlights the challenges and triumphs faced by their infant son, Rykker, diagnosed with Spinal Muscular Atrophy (SMA). After receiving ZolgenSMA, a groundbreaking treatment available since 2020, Rykker has shown signs of improvement, though his journey involves ongoing medical care and therapy.

His parents, Richard and Kaylee, cherish each moment with him, celebrating milestones like the twins' first birthday. Their outlook on life has evolved, driven by faith and a commitment to ensuring Rykker's quality of life. In response to their experiences, the Lazaros have established a foundation to raise funds for Rykker's medical expenses and contribute to SMA research.

 SMArt Moves 2 Grant Eases Powerchair Repair Costs for Families

 The SMArt Moves 2 Grant, provided by SMA UK, plays a crucial role in supporting families with the financial burden of powerchair repairs. Recently, Rob successfully applied for this grant to cover the cost of essential repairs for his son Oli's powerchair, which included new caster bearings, tyres, and a swing-away joystick, totalling £478.

The grant process was notably efficient, with Rob expressing surprise at the swift approval and payment, which occurred within weeks. This timely assistance was particularly beneficial as Oli was preparing to return to school for his GCSEs.