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MedXY AI/MedXY News/Tag: spinal muscular atrophy
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Evaluating Cell-Free DNA Testing for Autosomal Recessive Conditions in General-Risk Pregnancies: A Multicenter Prospective Study
newsspinal muscular atrophyautosomal recessive

Evaluating Cell-Free DNA Testing for Autosomal Recessive Conditions in General-Risk Pregnancies: A Multicenter Prospective Study

By MedXY|Aug 18, 2026

This prospective multicenter study demonstrates that cfDNA fetal risk screening accurately identifies autosomal recessive conditions in general-risk pregnancies with high specificity and improved positive predictive value compared to tradit

Treatment Evolution in 5q-Spinal Muscular Atrophy: Real-World Evidence and Clinical Insights from the SMArtCARE Registry
Clinical Updatesgene therapy
real‑world evidence

Treatment Evolution in 5q-Spinal Muscular Atrophy: Real-World Evidence and Clinical Insights from the SMArtCARE Registry

By MedXY|Mar 8, 2026

This review analyzes the shifting landscape of SMA therapy using data from 2,140 patients, highlighting the transition between nusinersen, risdiplam, and onasemnogene abeparvovec and the factors driving treatment switches.

Apitegromab (SAPPHIRE): phase 3 trial shows modest motor gains in non‑ambulatory type 2/3 spinal muscular atrophy on SMN therapies
Neurologyclinical trialspinal muscular atrophy

Apitegromab (SAPPHIRE): phase 3 trial shows modest motor gains in non‑ambulatory type 2/3 spinal muscular atrophy on SMN therapies

By MedXY|Oct 4, 2025

The SAPPHIRE phase 3 trial found that adding apitegromab to nusinersen or risdiplam produced a small but statistically significant improvement in motor function in children aged 2–12, with a safety profile similar to placebo.

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