Spinal Muscular Atrophy

Latest News
October 9th 2024

Breaking: Novel Prognostic Biomarkers Discovered for SMA

October 3rd 2024

5-Year Review Further Bolsters Support for Newborn SMA Screening

September 21st 2024

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

September 19th 2024

Decision-Making in SMA Complicated by Insufficient Treatment Comparison

September 17th 2024

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

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
Video Interviews
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March 7th 2021

Dr Vamshi Rao Discusses Possible Future Guidelines for SMA Care

February 28th 2021

Dr Vamshi Rao Discusses the Future of Combination Therapy in SMA

February 14th 2021

Dr Vamshi Rao Discusses Safety, Efficacy of SMA Treatments

February 7th 2021

Dr Vamshi Rao Discusses How COVID-19 Impacted SMA Treatment Access

January 31st 2021

Dr Vamshi Rao Discusses How New Therapies Are Changing Physician Perceptions on SMA Prognosis

October 31st 2020

Dr Jill Jarecki Discusses Whether Gender Affects SMA Severity

October 25th 2020

Dr Jill Jarecki Discusses the Early SMA Treatment for Infants

October 18th 2020

Drs Mary Schroth and Jill Jarecki Discuss Treatments for All SMA Types

October 11th 2020

Dr Jill Jarecki Discusses the Current Pipeline for SMA Therapies

October 4th 2020

Dr Mary Schroth Discusses At-Home Treatment Options for Patients With SMA

More News

The 6-Minute Walking Test is a common tool for measuring fatiguability in SMA | image credit: Antonioguillem - stock.adobe.com
August 28th 2024

Nusinersen May Improve Fatiguability in SMA, but More Research Is Needed

Kyle Munz
Findings from an Italian cohort suggest that nusinersen may benefit fatigue measures in patients with spinal muscular atrophy (SMA) type III; however, drawing definitive conclusions in this area remains difficult.
The SMN protein is expressed thoughout many body tissues types, including the liver | image credit: Rasi - stock.adobe.com
August 22nd 2024

SMN Depletion May Increase Risk of Liver Damage, Fatty Liver in SMA

Kyle Munz
A retrospective, single-center cohort study utilized liver ultrasound, serum collection, and proteome analysis to draw associations between spinal motor neuron (SMN) protein depletion and heightened risk for fatty liver disease in spinal muscular atrophy (SMA).
VR can reduce fear and anxiety associated with drawing blood in patients with SMA | image credit: matrosovv - stock.adobe.com
August 21st 2024

Virtual Reality Is a Game-Changer During Blood Draws for Pediatric Patients With SMA

Abraham Homer, MS
In honor of Spinal Muscular Atrophy (SMA) Awareness Month, Abraham Homer, MS, the gaming technology supervisor and creative technologist at Children's Hospital Colorado, shared how virtual reality transformed care for patients with SMA.
Apitegromab administered at 20mg/kg every 4 weeks lead to improvements in motor functions in patients with SMA | image credit: Justlight - stock.adobe.com
August 5th 2024

New Motor Milestones Achieved or Sustained With Apitegromab in Nonambulatory SMA

Kyle Munz
The extension of the TOPAZ study provided support for the long-term benefits and safety of apitegromab therapy in patients with spinal muscular atrophy (SMA) at 36 months.
SMA spinal muscular atrophy | Image Credit: © Rochu_2008 - stock.adobe.com
July 26th 2024

Potential Biomarkers Predict Disease Severity and Treatment Response in SMA

Kyle Munz
Results from a single-center, observational, prospective study suggested that inflammatory markers could predict disease severity and treatment efficacy for patients with spinal muscular atrophy (SMA).
Globally, SMA is diagnosed for an estimated 1 in every 10,000 births | image credit: Alexander Raths - stock.adobe.com
July 19th 2024

SMA Birth Prevalence in US Lower Than Expected, New Report Finds

Kyle Munz
A new report provided updated figures estimated the birth prevalence of spinal muscular atrophy (SMA) in the US.
Onasemnogene abeparvovec is a gene therapy approved in the last decade for SMA | image credit: ipopba - stock.adobe.com
Published: July 12th 2024 | Updated: July 12th 2024

Dual Therapy Well-Tolerated but Presents Little Benefit to Infantile-Onset SMA

Kyle Munz
A multicenter pilot study concluded that dual therapy in spinal muscular atrophy (SMA) does not provide further benefits to infants at risk for SMA type 1.
Risdiplam demonstrated great 5-year efficacy for improving motor functioning and feeding capabilities in children with type I SMA | image credit: Sittipol - stock.adobe.com
July 3rd 2024

Final Readout of FIREFISH Study Showcases Risdiplam’s Pronounced Effects in Spinal Muscular Atrophy

Marco Meglio
The FIREFISH study showed that most children with type I spinal muscular atrophy (SMA) maintained or improved motor functions and feeding abilities over 5 years when treated with risdiplam.
Medical Caregiver Concept | image credit: Alexis Scholtz - stock.adobe.com
December 31st 2023

Qualitative Study Explores Caregiver Experiences in SMA Treatment

Kyle Munz
This qualitative study conducted interviews with caregivers of patients with spinal muscular atrophy (SMA) to explore their unique experiences and challenges in navigating health systems to access disease-modifying therapies.
hospital | Image credit: VILevi - stock.adobe.com
December 27th 2023

More-Expensive SMA Medication Use Led to Lower Health Care Resource Utilization

Skylar Jeremias
Patients with spinal muscular atrophy (SMA) treated with a more expensive medication were found to have higher pharmacy costs but lower SMA-related health care resource utilization and medical costs compared with patients receiving standard-of-care nusinersen monotherapy.
Heavier Baby | image credit: Leka - stock.adobe.com
December 26th 2023

Onasemnogene Abeparvovec Effective in Treatment of Older, Heavier Children with SMA

Kyle Munz
A multivariable analysis suggested the safety and efficacy of onasemnogene abeparvovec (OA) in the treatment of older and heavier children with spinal muscular atrophy (SMA) type 1.
Lumbar Region Model | image credit: Crystal light - stock.adobe.com
December 20th 2023

Alternative Method of Nusinersen Administration Identified for SMA Cases With Spinal Deformities

Kyle Munz
A retrospective, single-center study out of the Czech Republic tested the safety and efficacy of unilateral interlaminar fenestration (UILF) on the convex side in cases of SMA that also exhibit severe spinal deformities.
Top 5 SMA Content 2023
December 16th 2023

Top 5 Most-Read Spinal Muscular Atrophy Content 2023

Kyle Munz
This year’s most-read spinal muscular atrophy(SMA) articles explored mental health, new technologies, caregiver well-being, and more.
Acetaminophen Bottle | image credit: luchschenF - stock.adobe.com
December 6th 2023

Acetaminophen Use Requires Careful Dosing in Patients With SMA, Study Says

Kyle Munz
A non-randomized, open-label, single-site clinical trial evaluated the safety and pharmacokinetics of acetaminophen intake in adults and children with spinal muscular atrophy (SMA) type II.
Cognitive Impairment Model | image credit: Pol Solé - stock.adobe.com
November 30th 2023

SMA May Be Linked to Cognitive Impairment in Chinese Patients

Kyle Munz
A cross-sectional study suggests that spinal muscular atrophy (SMA) can contribute to cognitive impairment.
SMA Puzzle | image credit: Dzmitry - stock.adobe.com
November 21st 2023

Innovations in SMA Treatment: The Last Decade and Beyond

Kyle Munz
The recent availability of 3 FDA-approved treatments for patients with spinal muscular atrophy (SMA) has dramatically altered patient outcomes and provided a wealth of new avenues for SMA research.
Alexander Fay, MD, PhD, UCSF Benioff Children's Hospital
November 18th 2023

Q&A: Lingering Theories and Questions in SMA Research

Kyle Munz
Alexander Fay, MD, PhD, joined for a Q&A about the current state of spinal muscular atrophy (SMA) treatment and the unanswered questions in the field.
Biomarker Concept | image credit: molekuul.be - stock.adobe.com
November 17th 2023

Researchers Identify Potential Biomarkers for SMA Motor Improvement Following Nusinersen Treatment

Kyle Munz
A retrospective, exploratory analysis identifies biomarkers predictive of spinal muscular atrophy (SMA) response to nusinersen and suggests the efficacy of using machine learning algorithms to anticipate patient outcomes.
SMA | Image credit: Rochu_2008 – stock.adobe.com
November 16th 2023

Type 1 SMA Linked to Increased Risk of Nephrolithiasis Among Children

Hayden E. Klein
According to researchers, the most prevalent risk factors in children with type 1 spinal muscular atrophy (SMA) are hypercalciuria and elevated urine specific gravity.
Infant Sitting on its Own | image credit: Prostock-studio - stock.adobe.com
October 27th 2023

RAINBOWFISH Results Highlight Risdiplam as Effective Treatment for Presymptomatic SMA

Marco Meglio
After 1 year of treatment with risdiplam, 81% of the 26-infant cohort was able to sit independently for 30 seconds, a milestone not typically reached in spinal muscular atrophy (SMA).
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.
Image of DNA
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.
picture of baby
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.
baby in mother's arms
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.
Image of a spine as puzzle pieces
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.
Image of a caregiver offering comfort
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.
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