Spinal Muscular Atrophy

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FDA approval. | Image Credit: syahrir - stock.adobe.com

Risdiplam Tablet for Spinal Muscular Atrophy Receives FDA Approval

February 12th 2025

The 5 mg risdiplam tablet provides the same efficacy and safety for spinal muscular atrophy as the currently available oral solution.

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PCR loading | image credit: angellodeco - stock.adobe.come

October 26th 2023

Novel Screening Method Shows Promise in Detecting SMA

Kyle Munz

Researchers have developed a new line method (NLM) that showcased benefits for genetic screening in spinal muscular atrophy (SMA).

Human Diaphragm | Image credit: magicmine - stock.adobe.com

October 12th 2023

Diaphragm Ultrasound Imaging Showcases Promise for Respiratory Assessments in SMA

Kyle Munz

In this prospective study, respiratory monitoring of patients with spinal muscular atrophy (SMA) benefited from the use of diaphragm ultrasound imaging.

Bone Deterioration | freshidea - stock.adobe.com

October 5th 2023

Study Validates the Positive Effects of Nusinersen on Bone Health in Patients With SMA Types 2 and 3

Kyle Munz

In a multidisciplinary follow-up study, researchers analyzed bone health decline and the effects of nusinersen in patients with spinal muscular atrophy (SMA) types 2 and 3.

Image of a mechanical ventilator: sudok1 - stock.adobe.com

March 21st 2023

Patterns of Lung Function Decline Likely Not Predictive of Respiratory Failure in SMA

Jaime Rosenberg

Following the course of lung function in treatment-naïve patients, researchers found that lung function decline does not accelerate prior to mechanical ventilation.

Image of a stethoscope and the letters S-M-A: Rochu_2008 - stock.adobe.com

March 17th 2023

Case Report Highlights Utility of Nusinersen in Older Children With SMA Type 1

Jaime Rosenberg

The Chinese report details the case of a 6-year-old female patient with type 1 SMA who was successfully weaned off prolonged invasive ventilation after beginning treatment with nusinersen.

March 4th 2023

Researchers Highlight Utility of Long-Read Method for SMN1, SMN2 Profiling in SMA

Jaime Rosenberg

The researchers used Paraphase on more than 400 samples of spinal muscular atrophy (SMA) comprising 5 ethnicities.

March 4th 2023

Nusinersen Modulates Neuroinflammation in Severe SMA, Study Says

Jaime Rosenberg

Researchers of the multicenter study looked at the effect of nusinersen among 48 patients with spinal muscular atrophy (SMA) from 2 Italian hospitals, finding more active immune systems among the patients with SMA1, the most severe form of the disorder.

February 18th 2023

NGS-Based Assay Shows Feasibility, Potential Cost Savings in Newborn SMA Screening

Jaime Rosenberg

Investigators note that although the overall cost for implementing next-generation sequencing (NGS) testing would be more than implementing current polymerase chain reaction (PCR)–based testing, the assay may be more cost effective overall because it screens for multiple conditions.

February 17th 2023

Real-World Data Show Most Nusinersen Doses Administered on Time

Jaime Rosenberg

The data showed that most doses of nusinersen were received on time while also underscoring the importance of being meticulous with the methodological approaches used with real-world databases for evaluating treatment patterns.

February 7th 2023

Improving SMA HRQOL Must Address Patient and Caregiver Well-being

Jaime Rosenberg

Data from 2 prospective studies showed correlations between impaired patient health-related quality of life (HRQOL) and disease severity, as well as correlations between the health of caregivers and their HRQOL and caregiver burden.

February 2nd 2023

YouTube Videos Have Mixed Quality, Reliability for Educating Patients About SMA

Julia Bonavitacola

A new study aimed to assess the quality and reliability of videos uploaded to YouTube that provide information around spinal muscular atrophy (SMA).

January 30th 2023

Researchers Highlight Implementation Gaps Among SMA Newborn Screenings

Jaime Rosenberg

As of September 2022, all but 2 states had implemented newborn screening programs for spinal muscular atrophy (SMA), accounting for 98% of births in the United States.

January 24th 2023

Patient-Reported Outcomes Emerging as Way to Monitor, Assess Patients With SMA

Julia Bonavitacola

Patients with spinal muscular atrophy (SMA) could have improved monitoring and assessment of their disease through the utilization of patient-reported outcome measures.

January 17th 2023

Screening for SMA in Newborns Alleviates Functional Burden, Associated Comorbidities

Julia Bonavitacola

A study found that screening for spinal muscular atrophy (SMA) in newborns paired with early access to disease-modifying therapies was effective in alleviating the burden and comorbidities of the disease.

January 12th 2023

Symptoms That Contribute to SMA Disease Burden Clarified in New Study

Julia Bonavitacola

Qualitative interviews conducted with caregivers of children with spinal muscular atrophy (SMA) found that the symptoms with the greatest effect on disease burden were not always the most prevalent symptoms in patients.

January 10th 2023

Nusinersen Treatment Had Positive Effect in Patients With SMA

Julia Bonavitacola

Pediatric and adult patients with a diagnosis of spinal muscular atrophy (SMA) benefitted from nusinersen treatment in that they were able to prolong their walking time.

science background for story about spinal muscular atrophy

January 7th 2023

Improved Implementation Strategies Can Further Advance SMA Care, Researchers Say

Allison Inserro

The diagnosis and treatment of a rare disease like spinal muscular atrophy (SMA) would benefit greatly from using implementation science to reduce the variation that exists in screening and therapy, according to researchers.

January 6th 2023

Patients With SMA, Family Members Need Empathetic Attitude From Diagnosing Physician

Julia Bonavitacola

Patients who receive a diagnosis of spinal muscular atrophy (SMA) require an empathetic approach from their primary care physician when receiving the diagnosis and evaluating options, according to recent study findings.

Child in hospital bed with stuffed animal

January 4th 2023

Children With SMA Have Increased Anxiety, Depression

Julia Bonavitacola

New study findings show that internalized problems such as anxiety and depression were found at higher levels in children and infants who had a diagnosis of spinal muscular atrophy (SMA).

December 26th 2022

Severity of SMA Muscle Impairment Prior to Treatment May Have Implications for Nusinersen Efficacy

Jaime Rosenberg

The findings, which the researchers say highlight the importance of early diagnosis and initiation of treatment, come amid efforts to determine efficacy trends among the several treatment options for the condition.

December 23rd 2022

Top 5 Most-Read SMA Articles of 2022

Justina Petrullo

The most-read spinal muscular atrophy (SMA) articles of the year touched on novel SMN1 gene detection, treatment advances, and the diagnostic difficulty encountered by some adult patients with SMA.

December 23rd 2022

Repeated SMA Treatment With Nusinersen Does Not Result in Consistent Increase in Immune Responses

Jaime Rosenberg

The findings, say the researchers, confirm that repeated intrathecal injections of the gene-targeting therapy are safe, adding to the limited data on the long-term effect and safety of the treatment approach in neurological diseases.

December 15th 2022

Journey to SMA Diagnosis in Ireland Highlights Utility of Newborn Screening Program

Jaime Rosenberg

Drawing on findings from other countries, including the United States, the group is highlighting the need for a newborn screening program to mitigate these current barriers.

November 27th 2022

Disease-Modifying Therapies Halt Progression in Patients With SMA Types 2, 3

Jared Kaltwasser

The new report is based on real-world data from a patient registry and shows some patients even regain motor function under treatment with nusinersen for spinal muscular atrophy (SMA).

November 26th 2022

Motor Function Continues to Improve in Second Year of Risdiplam Treatment for SMA

Jaime Rosenberg

Detailing findings from the secondary end points of the FIREFISH trial at 24 months, the researchers found that risdiplam treatment was associated with continued improvements in motor function and the achievement of development motor milestones.

November 22nd 2022

Certain CSF Biomarker May Foretell Nusinersen Response in Children With SMA

Jaime Rosenberg

Using data from patients with spinal muscular atrophy (SMA) type 1 and 2, researchers observed that chitotriosidase 1 levels in cerebral spinal fluid (CSF) changed over time after treatment with nusinersen, suggesting that the change could be indicative of treatment response.

November 15th 2022

Exoskeleton Leads to Improvement in Child With SMA Type 2

Jared Kaltwasser

The child living with spinal muscular atrophy (SMA) type 2 had less fatigue and improved functional scores as time went on.

November 10th 2022

Long-term Noninvasive Ventilation, CPAP Use Up Among Children in France with Neuromuscular Diseases

Jared Kaltwasser

This new report also shows the value of national databases tracking the use of ventilation support.

November 9th 2022

Risdiplam’s Real-World Safety Profile Mirrors That of Clinical Trials

Jared Kaltwasser

The new data suggest risdiplam can be a viable option for people with spinal muscular atrophy who cannot take or tolerate the 2 other approved disease-modifying therapies.

September 30th 2022

Leptin Unlikely to Be Biomarker for SMA Disease Severity, Researchers Find

Jared Kaltwasser

Leptin merely correlated with body mass index, the study found.

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