SMA News Briefs

Doctors working

Study Evaluates Biomarkers in Pediatric SMA Before and During Nusinersen Treatment

A new study evaluated the correlation and predictive power of several cerebrospinal fluid (CSF) biomarkers related to functional motor scores, disease activity, and clinical outcomes in patients with spinal muscular atrophy (SMA) before and during nusinersen (Spinraza®) treatment. Researchers analyzed the levels of phosphorylated heavy chain (pNf-H), light-chain neurofilaments (NfL), total tau protein (T-Tau), neurogranin,…

Child with SMA

A New Motion Tracking Method to Evaluate Movement Pattern in SMA Patients

Researchers have developed a new system, KineMAT, to evaluate spinal muscular atrophy (SMA) patients’ motor skills. In a published study, they concluded that “markerless whole-body motion capture using the KineMAT proved to objectively capture motor performance in infants and children with SMA across different severity and ages.” The KineMAT system used an affordable sensor camera…

studying rare diseases

New Data Support Development of Apitegromab as a Potential Treatment for SMA

Apitegromab, a monoclonal antibody against promyostatin and latent myostatin can inhibit the activation of promyostatin in vitro, confirmed a new study published in the International Journal of Toxicology. Moreover, studies in monkeys and rats showed that weekly intravenous administration of apitegromab was well-tolerated, with no treatment-related adverse effects, and led to sustained serum exposure and…

sma classification

Onasemnogene and Risdiplam Combination Well-Tolerated in SMA Type 1 Patients

Researchers from the Wake Forest School of Medicine in Winston-Salem, South Carolina announced study results which found the combination therapy of onasemnogene (Zolgensma®) and risdiplam (EvrysdiTM) was well-tolerated in 4 patients with spinal muscular atrophy (SMA) type 1. The authors of the small case study, published in Muscle & Nerve, also stated “all patients experienced…

PEDI-CAT Assessment Validated in Youth With SMA

The Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT) is a time-efficient, valid, easy way to measure the functional abilities of children and youth with spinal muscular atrophy (SMA), according to researchers who examined the psychometric properties of the assessment in 96 children and youth with the disorder. The cross-sectional study, published in the Journal…

adult SMA

Nusinersen Demonstrates Efficacy in Pediatric and Adult SMA Type 3

Pediatric and adult spinal muscular atrophy (SMA) type 3 patients showed improved Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM) scores after 12 months of treatment with nusinersen (Spinraza®). The “findings expand the available data on the effect of nusinersen on type 3 patients, so far mostly limited to adult patients,”…

sma motor neuron

Changes to Antisense Oligonucleotides May Improve Gene Therapy in SMA

A new study from researchers in Russia and the UK investigated the use of novel biochemical modifications to antisense oligonucleotides (ASOs) for the treatment of spinal muscular atrophy (SMA). The article, published in Nucleic Acid Therapeutics, describes the production of ASOs with novel backbone modifications and evaluated their splice-switching activity in SMA fibroblasts and murine…

NORD Panel

NORD Panel: Significant Breakthroughs Occurring in Rare Disease Treatment

A panel of experts at the National Organization for Rare Disorders (NORD) virtual Patient and Family Forum outlined what they see as the most impactful breakthroughs in the field of rare diseases, ranging from the completion of the human genome and the availability of next-generation sequencing in the clinic to genome editing and its use…

NORD health equity

Virtual NORD Forum Advocates for Health Equity Among Rare Disease Patients

The meaning of health equity and solutions to barriers faced by members of the rare disease community were among the points discussed during the “Intersection of Race, Ethnicity, and Equity with Diagnosis and Treatment Access” session of the National Organization for Rare Disorders’ recent virtual Patient and Family Forum. Connie Montgomery, a patient and family…

Evrysdi

Risdiplam Shows Promise in Presymptomatic Infants With SMA

Presymptomatic infants with spinal muscular atrophy (SMA) who were treated with risdiplam (Evrysdi™) reached significant motor milestones such as sitting unaided, rolling, crawling, standing, and walking independently, according to preliminary data presented at the virtual 2021 Spinal Muscular Atrophy Conference. The data come from RAINBOWFISH, an ongoing open-label, single-arm, multicenter study investigating the efficacy, safety,…

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