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Spinal Muscular Atrophy

Dennis P. Scanlon, PhD; Emma Ciafaloni, MD; Maria Lopes, MD, MS; Kevin U. Stephens, Sr, JD, MD; Mary Schroth, MD, FAAP, FCCP

Reducing Disease Burden Through Early Diagnosis and Treatment of Spinal Muscular Atrophy (SMA)

Hear an overview of the disease burden in spinal muscular atrophy and learn about clinical and payor perspectives on screening and diagnosis, current treatment options, and new disease-modifying therapies in SMA.

Incorporating Risk Modifier Into Screening May Identify More Potential SMA Carriers

March 26th 2022, 8:41am

Article

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

Article

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

Article

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

Article

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

Article

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

Article

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

Article

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

Article

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

Article

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

Article

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.