Spinal Muscular Atrophy

Latest News

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

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

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

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

Survey Shows Wide Support for Spinal Muscular Atrophy Screening in Japanese Newborns
September 3rd 2021

Survey Shows Wide Support for Spinal Muscular Atrophy Screening in Japanese Newborns

Tyler Gamba
Even though respondents did not know very much about spinal muscular atrophy, the survey showed that most were in favor of newborn screening.
Neuron firing
March 27th 2021

Researchers Highlight Emerging Concepts Underlying Selective Neuromuscular Dysfunction in SMA

Jaime Rosenberg
Conducting a review of data published over a 25-year period, researchers highlight the importance of this type of research they say offers insight that drives the success of SMA treatment.
Close-up of microscope
March 25th 2021

Case Study Highlights Benefit of Nusinersen in Late-Onset SMA

Jaime Rosenberg
This case study, involving a boy aged 13 years, shows that in a little over 1 year, the treatment yielded significant clinical benefit.
microscope and dna model on a world map
March 19th 2021

Poster Presentations Demonstrate New Safety and Efficacy Data on Zolgensma for SMA

Skylar Jeremias
Spinal muscular atrophy treatment Zolgensma was found to be safe and effective for long-term use and use in presymptomatic patients, according to posters presented at the 2021 MDA Virtual Clinical & Scientific Conference.
Young woman using wheelchair
March 14th 2021

Study Offers Snapshot of Successes and Challenges of Teens and Young Adults With SMA

Skylar Jeremias
Results of a survey depicting the ways that spinal muscular atrophy (SMA) affects the lives of adolescents and young adults revealed areas of support that need to be addressed to ensure that patients are able to live their best possible lives.
Nusinersen Elicits Functional Innervation in Patients With SMA
March 14th 2021

Nusinersen Elicits Functional Innervation in Patients With SMA

Jaime Rosenberg
According to the researchers, the findings are paving the way toward precision medicine and may have broader use in tracking treatment response in adult-onset motor neuropathy in the future.
Hands holding the world
March 12th 2021

SMA Costs Vary Widely Around the World by Disease Type

Larry Hanover
Reliable data on the costs of spinal muscular atrophy (SMA) illness are scarce, leaving key questions unanswered as new, high-priced therapies continue to emerge.
Inpatient, Outpatient Costs of SMA Are “Tremendous,” Study Highlights
March 3rd 2021

Inpatient, Outpatient Costs of SMA Are “Tremendous,” Study Highlights

Laura Joszt, MA
Direct inpatient and outpatient costs are significantly higher for patients with untreated spinal muscular atrophy (SMA) compared with matched controls.
Risdiplam Leads to Greater Production of Vital SMN, SMA Study Says
February 26th 2021

Risdiplam Leads to Greater Production of Vital SMN, SMA Study Says

Allison Inserro
The results also showed that the infants achieved certain milestones in motor development, pulmonary function, and survival.
Language, Intellect, Speech Differ by Phenotype in Children With SMA Type 1
February 14th 2021

Language, Intellect, Speech Differ by Phenotype in Children With SMA Type 1

AJMC Staff
Speech impairment was primarily linked to motor impairment, according to a study examining the development trajectory of children with spinal muscular atrophy.
Emergence of Gene-Specific Therapies for SMA Brings Promise, Questions
January 27th 2021

Emergence of Gene-Specific Therapies for SMA Brings Promise, Questions

Jaime Rosenberg
While these therapies continue to revolutionize the treatment landscape of SMA, treatments are not without shortcomings or challenges.
SMA Associated With Metabolic, Nutritional Issues
January 24th 2021

SMA Associated With Metabolic, Nutritional Issues

Jaime Rosenberg
Documented issues include lipid metabolic abnormalities, glucose metabolic abnormalities, and altered vitamin levels.
Top 5 Most-Read SMA Stories of 2020
December 26th 2020

Top 5 Most-Read SMA Stories of 2020

Skylar Jeremias
The top 5 most-read stories about spinal muscular atrophy (SMA) of 2020 on AJMC.com focused on a new treatment option for SMA and whether gender or gene mutations have any effects on the disease.
What Are Pulmonary Function Testing Options in Neuromuscular Diseases Like SMA?
December 19th 2020

What Are Pulmonary Function Testing Options in Neuromuscular Diseases Like SMA?

Jaime Rosenberg
Researchers review pulmonary function testing measures that span 4 categories that can assess the respiratory muscle dysfunction that happens in diseases like spinal muscular atrophy (SMA).
Newly Studied Neurological Impact of Polio Could Have Implications for SMA
December 19th 2020

Newly Studied Neurological Impact of Polio Could Have Implications for SMA

Jaime Rosenberg
Researchers found abnormal coherence patterns in survivors of childhood polio.
Despite Favorable Safety, Olesoxime Falls Short Among Efficacy Markers for SMA
December 10th 2020

Despite Favorable Safety, Olesoxime Falls Short Among Efficacy Markers for SMA

Jaime Rosenberg
Long-term follow-up of the treatment showed that while it has a favorable safety profile, the treatment does not offer significant efficacy for patients with spinal muscular atrophy (SMA) type 2 and non-ambulant type 3.
Clinician reviewing results
December 7th 2020

Population Carrier Screening Increases Prenatal SMA Diagnoses, Reduces SMA Births

Jaime Rosenberg
Between the first introduction of population carrier screening in 2008 and its expansion to the full Israeli population in 2013, the mean rate of prenatal diagnoses per year was 4.66, and this rose to 7.75 between 2014 and 2017, a 66% increase.
Droplet of money
December 5th 2020

Patients With SMA Have Medical Costs Over 50 Times Higher Than Those of Healthy Patients

Jaime Rosenberg
For infants, the main driver of these increased costs came from inpatient visits vs outpatient visits among children and juveniles.
Close-up of eye
December 3rd 2020

Risdiplam Not Associated With Retinol Toxicity in SMA, Study Says

Jaime Rosenberg
Treatment with risdiplam may not elicit ophthalmologic toxicity in older patients, as well as infants with immature retinas.
Case Report Shows Neuropathological, Molecular Findings of SMA Type 3 With Superficial Siderosis
November 28th 2020

Case Report Shows Neuropathological, Molecular Findings of SMA Type 3 With Superficial Siderosis

Jaime Rosenberg
Researchers have published their postmortem report on a case of spinal muscular atrophy type 3 complicated by superficial siderosis, offering details on their neuropathological and molecular findings.
Researchers Offer Indications of and Prophylactic Measures for Hepatotoxicity in SMA
November 26th 2020

Researchers Offer Indications of and Prophylactic Measures for Hepatotoxicity in SMA

Jaime Rosenberg
The compiled results revealed that hepatotoxicity related to the gene therapy typically presented as cholestatic, which could be prophylactically treated with prednisolone.
MRI room
November 21st 2020

Imaging Study Shows Upper Leg Involvement in SMA

Jaime Rosenberg
Using DIXON, T2 mapping, and diffusion tensor imaging, the researchers obtained quantitative MRI for 31 patients with spinal muscular atrophy (SMA) types 2 and 3.
Needle in vial
November 18th 2020

Nusinersen Improves Respiratory Muscle Strength in Patients With SMA Type 2

Jaime Rosenberg
Following 6 injections of nusinersen, respiratory muscle performance was significantly better among the treated patients compared with age‐matched historical controls.
Doctor holding baby
November 14th 2020

Using Nusinersen in Type 0 SMA Led to Mild Benefits, Case Study Shows

Jaime Rosenberg
At the time of treatment, there was just 1 paper documenting the use of nusinersen in a case of more mild type 0 spinal muscular atrophy(SMA).
DNA graphic
November 12th 2020

Researchers Identify Novel Mutations in SMA

Jaime Rosenberg
Researchers have identified additional mutations in both SMN1 and other genes, some of which may be associated with the onset of spinal muscular atrophy (SMA).
Neurons
November 7th 2020

Study Highlights Differences in Adaptive Skill Impairments Across NMDs

Jaime Rosenberg
The study emphasizes the importance of school support and other psychosocial interventions considering specific deficits across adaptive skills in patients with neuromuscular diseases (NMDs).
central nervous system graphic
November 6th 2020

Researchers Explore Respiratory Impact of Novel Therapies in SMA

Jaime Rosenberg
The researchers of the review discuss the reported impact of novel therapies for spinal muscular atrophy (SMA) and highlight the need for long-term data and monitoring of respiratory outcomes.
Stethoscope on money
October 30th 2020

Nusinersen Passes Cost-Effectiveness Thresholds for Infantile-Onset SMA

Jaime Rosenberg
The study offers the first de novo cost-effectiveness model of these patients in the United States, according to the researchers.
Newborn in parent hands
October 23rd 2020

Study Highlights Importance of Swift SMA Diagnosis Through Use of Newborn, Carrier Screening

Jaime Rosenberg
A new study is underscoring the importance of diagnostic testing for patients with spinal muscular atrophy (SMA) to ensure early diagnosis of the disease.
Image of brain
October 17th 2020

Analysis Shows Utility of Tool to Detect Motor Function Change in SMA

Jaime Rosenberg
Analyzing data from a phase 2 study of patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA,) researchers found that the assessment is a valid, reliable, and responsive assessment of motor function ability for these patients.
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