Spinal Muscular Atrophy

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Biomarker identification has the potential to transform screening, early identification and treatment for diseases like SMA | image credit: Катерина Євтехова - stock.adobe.com

Breaking: Novel Prognostic Biomarkers Discovered for SMA

By Karen Jacobson-Sive

October 9th 2024

CNTN1 and NRXN3 clearly differentiated severe and milder forms of spinal muscular atrophy (SMA).

Newborn screening can provide numerous benefits for infants who may have unknown conditions or complications | image credit: Peakstock - stock.adobe.com

5-Year Review Further Bolsters Support for Newborn SMA Screening

October 3rd 2024

SMA has previously been associated with multiple metabolic and nutritional issues | image credit: JEGAS RA - stock.adobe.com

New Research Unearths Evidence of Global Metabolic Disruption in Patients With SMA

September 21st 2024

Clinical decision-making in SMA could benefit from more comprehensive trial data comparing SMA treatments | image credit: HASAN - stock.adobe.com

Decision-Making in SMA Complicated by Insufficient Treatment Comparison

By Nameera Temkar, MD

September 19th 2024

Nusinersen was the first FDA-approved drug for the treatment of SMA in pediatric and adult patients in December 2016 | image credit: AGPhotography - stock.adobe.come

Higher-Dose Nusinersen Meets Primary End Point in Phase 2/3 DEVOTE Study for Spinal Muscular Atrophy

By Isabella Ciccone, MPH

September 17th 2024

Spinal Muscular Atrophy Spotlight

The introduction of 3 FDA-approved therapies for spinal muscular atrophy is enabling clinicians to treat the disease completely different from how it was handled in the past.

John Brandsema, MD of Children's Hospital of Philadelphia

More News

Image of stethoscope and question mark

January 11th 2022

Nusinersen Likely to Improve QOL for Patients With SMA

Jaime Rosenberg

Across most questionnaire domains, patients reported improvements to their quality of life (QOL) while receiving treatment for spinal muscular atrophy (SMA) with nusinersen.

Research Highlights Significantly Higher Risk of Mortality Among Patients With SMA Prior to Nusinersen Approval

January 7th 2022

Research Highlights Significantly Higher Risk of Mortality Among Patients With SMA Prior to Nusinersen Approval

Jaime Rosenberg

Based on the data from over 5000 patients with spinal muscular atrophy (SMA) and 50,000 age-matched controls, patients with SMA had a nearly 1.8-fold higher mortality rate.

Lesser Studied Nonrespiratory Complications in Nusinersen-Treated SMA1 May Affect Outcomes

January 5th 2022

Lesser Studied Nonrespiratory Complications in Nusinersen-Treated SMA1 May Affect Outcomes

The respiratory complications of spinal muscular atrophy are well-researched, but a new study provides insight into nonrespiratory complications that may be just as crucial.

doctor coat

December 23rd 2021

Case Series Gives Insight Into Surgical Intervention for SMA Patients with Severe Scoliosis

Patients with spinal muscular atrophy often present with severe scoliosis but face an elevated risk of complications from corrective surgery.

Top 5 Most-Read Spinal Muscular Atrophy Stories of 2021

December 22nd 2021

Top 5 Most-Read Spinal Muscular Atrophy Stories of 2021

Skylar Jeremias

The top 5 most-read spinal muscular atrophy stories of 2021 on AJMC.com covered a variety of topics concerning the disease, including cost differences, the potential for combination therapies, and identifying biomarkers for treatment.

New Imaging Approach May Assess Disease Burden in Patients With SMA

December 18th 2021

New Imaging Approach May Assess Disease Burden in Patients With SMA

Jaime Rosenberg

If further studies confirm a benefit by using Multispectral Optoacoustic Tomography (MSOT), the technology can help forge a path toward a noninvasive, bedside, nonionizing approach to early visualization of disease as well as evaluation of disease burden and disease progression in patients.

xray of spine

December 11th 2021

Scoliosis Surgery for Pediatric SMA1 Comes With Serious Complications, Study Says

A case series of corrective surgeries in children with severe scoliosis due to spinal muscular atrophy (SMA) type 1 showed a positive success rate, but with significant postoperative complications.

pregnant woman

December 2nd 2021

Pilot Program Underscores Importance of Newborn Screening to Identify, Treat SMA

Testing for spinal muscular atrophy in an Australian newborn screening program identified patients across socioeconomic and cultural demographics, mitigating inequity and providing patients with access to multidisciplinary treatment.

pediatric patient in hospital bed

November 26th 2021

Study Assesses Age-Related Sensory Neuropathy in SMA

Sensory nerve action potential amplitudes decreased as patients aged in a cohort of spinal muscular atrophy (SMA) type 1 patients compared with a healthy, age-matched control group.

using a calculator

November 22nd 2021

More Research Needed on SMA-Associated Costs, Resource Use

Authors of a systematic literature review concluded more research is needed to better understand the financial burden of spinal muscular atrophy (SMA).

Respiratory, Upper Limb Function Declines After Loss of Ambulation in SMA Type 3

November 18th 2021

Respiratory, Upper Limb Function Declines After Loss of Ambulation in SMA Type 3

A recent review provides insight into the clinical progression of treatment-naive patients with spinal muscular atrophy type 3 who have lost ambulation.

blue cross

November 13th 2021

Real-world Data Find Nusinersen Safe and Effective in Patients With SMA1

A retrospective observational cohort study of patients ranging in age from infants to adults provides real-world evidence that nusinersen is safe and effective for those with SMA1.

red cross graphic

November 11th 2021

Analysis of Nusinersen Shows Favorable Safety Profile in Adults With SMA

Data on nusinersen’s safety profile in adult patients are more limited than in infant and adolescent patients, but a recent study showed positive results based on cerebrospinal fluid and blood sample parameters.

Adult supporting child

November 6th 2021

Home Support Outweighs Nusinersen Delays in Patients With SMA During COVID-19 Lockdown

A small, single-center study determined that adequate support at home affected outcomes in motor ability more so than the first COVID-19 lockdown in Italy.

Calendar with circled date

November 5th 2021

Nonadherence to Nusinersen Treatment Increases Health Care Utilization, Costs in SMA

Results of a retrospective claims database analysis suggest that adherence to scheduled intrathecal nusinersen injections may lead to improvements in comorbidities, health care utilization, and costs for spinal muscular atrophy (SMA) types 1, 2, and 3.

Biomarkers for Adult SMA Patients Treated With Nusinersen Remain Elusive

October 30th 2021

Biomarkers for Adult SMA Patients Treated With Nusinersen Remain Elusive

As spinal muscular atrophy (SMA) treatments advance, new biomarkers that correlate with clinical outcomes are needed to gauge treatment response.

Study Evaluates Potential Cerebrospinal Fluid Biomarkers in SMA Treatment

October 30th 2021

Study Evaluates Potential Cerebrospinal Fluid Biomarkers in SMA Treatment

The single-center study explored cerebrospinal fluid neurofilament and protein levels in patients with spinal muscular atrophy (SMA) undergoing treatment with nusinersen in an effort to identify useful biomarkers as treatment options expand.

Motor neurons

October 23rd 2021

Motor Unit Number Estimation Provides Insight Into Nusinersen Effects in SMA

The MScanFit method assessed changes in motor unit configuration in adult patients undergoing treatment for spinal muscular atrophy (SMA).

More SMA Biomarkers Are Needed to Gauge Disease Progression, Therapy Response

October 21st 2021

More SMA Biomarkers Are Needed to Gauge Disease Progression, Therapy Response

A review of current molecular and electrophysiological biomarkers in spinal muscular atrophy (SMA) concluded that more exploration is necessary to find noninvasive, yet accurate, measures of disease progression and therapy response.

Brain waves

October 16th 2021

New Study Clarifies Cognitive Function in Adults With SMA vs Healthy Adults

A recent study compared intelligence quotient test scores between adult patients with spinal muscular atrophy (SMA) and healthy adults.

Intrathecal catheter

October 14th 2021

Subcutaneous Intrathecal Catheter Allows for Effective Administration of Nusinersen in SMA

A novel indwelling subcutaneous intrathecal catheter circumvented the complex spine anatomy of patients with spinal muscular atrophy (SMA), a challenge when giving nusinersen via intrathecal injection.

Stuffed animal and stethoscope

October 10th 2021

Despite Progress in SMA Identification and Treatment, More Work Remains

A review of advances in spinal muscular atrophy (SMA) identification and treatment highlights areas where there is room for improvement.

Blood sample in centerfuge

October 8th 2021

Serum Neurofilament Light Chain May Be a Viable Biomarker in SMA

Biomarkers for spinal muscular atrophy are needed to further analyze treatment efficacy, and a recent study points to serum neurofilament light chain levels as a possible option.

DNA section

October 3rd 2021

Modern Gene Therapies Show Promise in Motor Neuron Disorders

A review of current research and drug development in motor neuron disorders such as amyotrophic lateral sclerosis and spinal muscular atrophy shows progress in the identification of treatment pathways and therapies.

Child and parent at doctor's office

October 1st 2021

Assessing Upper-Limb Function in Neuromuscular Diseases: Current Tools and Needs

A review of instruments used to assess upper-limb function in patients with neuromuscular diseases found that more tools are needed to address specific diseases.

Gene therapy

September 26th 2021

Risk vs Impact: Viral Gene Therapy for SMA

A recent review of viral gene therapy in pediatric neurological diseases included positive outcomes in patients with spinal muscular atrophy (SMA).

Child in hospital

September 24th 2021

SMA Growth Patterns Differ From General Pediatric Percentiles

Recent research identified spinal muscular atrophy (SMA)–specific growth percentiles, aiming to improve clinical management of the nutritional aspects of the disease.

Picture of infant

September 18th 2021

Lack of Awareness, Screening Slows SMA Diagnosis in Infants

A pair of surveys found that there are knowledge and practice gaps preventing earlier diagnoses of spinal muscular atrophy (SMA) in infants and toddlers.

Photo of newborn child

September 16th 2021

Study Clarifies Prevalence and Incidence of SMA in Japan

An epidemiological investigation of spinal muscular atrophy (SMA) in Japan provided clarity on the genetic condition’s prevalence and incidence in the country and highlighted the importance of newborn screening for SMA

Improving Outcomes-Based Managed Entry Agreements for SMA Therapy

September 12th 2021

Improving Outcomes-Based Managed Entry Agreements for SMA Therapy

Allison Inserro

Innovative therapies for rare diseases such as spinal muscular atrophy (SMA), when paid for by public budgets in the European Union and elsewhere, are often managed by agreements between payers and drug companies, but details can be hard to discern.

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