Spinal Muscular Atrophy

Incorporating Risk Modifier Into Screening May Identify More Potential SMA Carriers

March 26th 2022, 8:41am


Although most SMA carriers can be identified through routine SMN1 copy number assessment data, approximately 4% of carriers who harbor 2 copies of SMN1 can go undetected.

Initial RCT Data Support Safety, Efficacy of Nusinersen in SMA

March 19th 2022, 12:08pm


Across the studies of a new analysis, there was a significant risk difference in motor milestone response and improvement in Hammersmith Infant Neurological Examination score.

Skeletal Muscle Biomarkers Altered in Type of SMA, Study Says

March 17th 2022, 1:58pm


In the majority of the 49 patients with a type of spinal muscular atrophy called spinal muscular atrophy Jokela, creatine kinase was elevated, particularly in males.

Researchers Outline Management Strategies for Growing Adult SMA Population

March 12th 2022, 4:00pm


Due to advances in the treatment of spinal muscular atrophy (SMA), the lifespan of patients with the disease has increased significantly, allowing them to enter adulthood. However, the change in SMA prognosis has also led to a knowledge gap in the natural history, management, and treatment strategy for adult patients, according to the researchers.

Shifting SMA Landscape Poses Ethical Considerations for Screening, Treatment

March 10th 2022, 10:12pm


Across these ethical considerations, the researchers emphasize the importance of collaborating with patients and their caregivers.

Researchers Urge Incorporation of Multidimensional Fatigue Scale in SMA Care

March 5th 2022, 5:27pm


The researchers observed internal consistence and convergent validity, leading them to suggest the tool be incorporated as a clinical standard in spinal muscular atrophy (SMA) care.

PEF May Be Preferred Measure of Respiratory Strength for SMA Follow-Up

March 4th 2022, 7:20pm


With clear differences at baseline and subsequent declines seen in a linear pattern, the researchers suggested peak expiratory flow may be a suitable outcome measure for longitudinal assessment of respiratory muscle strength in these patients.

Study: Nusinersen Continues to Improve Motor Function in SMA in Second Year of Treatment

February 24th 2022, 10:00pm


Improvements, explained the researchers, were mainly driven by younger patients, with smaller improvements seen in older patients.

Research Confirms Common Feature of Type 2 SMA, Reveals Novel Insights

February 19th 2022, 6:00pm


According to researchers, their findings warrant close surveillance of weight and BMI/age z-scores for patients with type 2 spinal muscular atrophy (SMA).

Global Assessment of Nusinersen Reimbursement Highlights Need for More Transparency

February 18th 2022, 9:30pm


The researchers investigated the role that economic evaluation and budget impact analysis plays in reimbursement decisions for nusinersen, collecting data from countries across the globe.