Spinal Muscular Atrophy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

September 29th 2022

Before Advanced Therapies, Hip Pain Common in SMA, Study Finds

The study could provide an important baseline of what the disease looked like before the advent of disease-modifying therapies.

Image of the spine as a puzzle missing a piece

September 10th 2022

Inspiratory Muscle Loading May Be Meaningful Therapy in SMA

This study suggests that the diaphragm may fare differently from other muscles in spinal muscular atrophy (SMA).

September 6th 2022

Existing SMA Scales Lack Responsiveness to Patient Changes, Study Finds

A new therapeutic paradigm has heightened the need for meaningful measures of assessing patients.

September 2nd 2022

Patients and Parents Impacted by SMA May Be Optimistic About Prenatal Testing, Therapies

Rose McNulty

As the feasibility of phase 1 clinical trials for prenatal spinal muscular atrophy (SMA) therapies is explored, patient and parent input on prenatal testing and possibly treatment is a valuable tool for guiding research discussions.

August 26th 2022

Nusinersen Linked With Modest Improvements in Adult SMA