December 31st 2023
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.
Motor Function Continues to Improve in Second Year of Risdiplam Treatment for SMA
November 26th 2022Detailing 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.
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Certain CSF Biomarker May Foretell Nusinersen Response in Children With SMA
November 22nd 2022Using 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.
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Patients and Parents Impacted by SMA May Be Optimistic About Prenatal Testing, Therapies
September 2nd 2022As 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.
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Nusinersen Linked With Modest Improvements in Adult SMA
August 26th 2022The patients, from 5 referral centers, were followed for at least 6 months and showed modest improvements in both motor and functional scales when treated with the antisense oligonucleotide for spinal muscular atrophy (SMA).
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Initiation of Nusinersen for SMA Soon After Birth May Allow for Normal Outcomes
July 2nd 2022Publishing their findings on the earliest treated infants to date, the researchers detailed the outcomes of 2 patients treated with nusinersen in their first week of life after receiving a spinal muscular atrophy (SMA) prenatal diagnosis.
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Comprehensive Analysis of SMA May Improve Detection, Lower Residual Risk Ratio
June 29th 2022The researchers of this new study wrote that although SMA carrier screening is recommended for all couples, current testing methods primarily focus on copy number loss of SMN1, which can result in false-negative test results due to intragenic mutations and silent carriers falling under the radar.
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