long term comparative analysis of aav9 mediated gene replacement therapies for spinal muscular atrophy in mice

Original title: “Long-term comparative analysis of AAV9-mediated gene replacement therapies for spinal muscular atrophy in mice.”

clinical characterization of patients with 5q spinal muscular atrophy types 2 and 3 in brazil a cross sectional observational study

Original title: “Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study.”

spinal muscular atrophy clinical and genetic aspects and therapeutic alternatives

Original title: “[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives].”

management of spinal muscular atrophy nursing clinical commentary and best practices update

Original title: “Management of spinal muscular atrophy: nursing clinical commentary and best practices update.”

adherence persistence and safety of risdiplam in spinal muscular atrophy a population based cohort study

Original title: “Adherence, Persistence, and Safety of Risdiplam in Spinal Muscular Atrophy: A Population-Based Cohort Study.”

feasibility and usefulness of personalised patient reported outcome measures in the therapeutic follow up of adult spinal muscular atrophy patients

Original title: “Feasibility and usefulness of personalised patient-reported outcome measures in the therapeutic follow-up of adult spinal muscular atrophy patients.”

ethics and equity in access to disease modifying therapies and newborn screening for spinal muscular atrophy a scoping review

Original title: “Ethics and equity in access to disease-modifying therapies and newborn screening for spinal muscular atrophy: A scoping review.”

haloperidol induces neuroprotection and enhances neuromuscular function in both murine and human models of spinal muscular atrophy

Original title: “Haloperidol induces neuroprotection and enhances neuromuscular function in both murine and human models of spinal muscular atrophy.”

intersection of spinal muscular atrophy and progressive myoclonic epilepsy syndrome asah1 gene

Original title: “Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene.”

Updated dosing offers meaningful clinical benefit

Original title: “FDA approves new high dose Spinraza regimen for SMA”

The FDA rejected the high-dose regimen of Spinraza in September last year due to manufacturing concerns.

Original title: “Biogen Bounces Back With FDA Nod for High-Dose Spinal Muscular Atrophy Drug”

sleep phenotypes and respiratory disturbances in spinal muscular atrophy a systematic review of clinical evidence

Original title: “Sleep phenotypes and respiratory disturbances in spinal muscular atrophy: A systematic review of clinical evidence.”

could an outcome based agreement be operationalized using real world data from the canadian neuromuscular disease registry perspectives from an expert led assessment in spinal muscular atrophy

Original title: “Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy.”

In a letter to European patients, Roche said its decision to end development of “emugrobart” was based on the drug “not consistently” improving muscle growth and motor function in a key study.

Original title: “Roche stops work on experimental SMA drug”

The main beneficiary of Roche’s discontinuation of an investigational spinal muscular atrophy drug is Scholar Rock, which was hobbled by manufacturing concerns at a Novo Nordisk facility last year but is now nearing a potential resolution.

Original title: “Roche Ends Run for Muscular Atrophy Drug, Leaving Door Open for Competitors”

adult sma reach a uk clinical network and real world data collection study for adults living with spinal muscular atrophy

Original title: “Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy.”

Data presented at the 2026 Muscular Dystrophy Association meeting could have readthroughs to companies developing therapies for spinal muscular atrophy, Duchenne muscular dystrophy and Becker muscular dystrophy.

Original title: “MDA 2026: Biogen, Sarepta, Edgewise Address Muscle Disorders”

Discover how the UAE is leading the way in precision medicine, offering hope to rare disease patients through advanced genomics and personalized care. Learn about the transformative impact of early genomic screening and targeted therapies. In disorders such as spinal muscular atrophy or duchenne muscular dystrophy, therapies like gene replacement, exon-skipping, and molecular modulation are designed to correct or compensate for specific genetic defects. Without precise genetic characterisation, these treatments cannot be appropriately offered,” Dr. Vivek Mundada, consultant paediatric neurology at Medcare Royal Speciality Hospital, told Gulf News. “Moreover, rare diseases frequently involve multiple organ systems. One of the most significant findings in rare disease care has been the growing accessibility of early genomic screening. Advanced sequencing technologies can now analyse vast portions of the genome in a matter of days, a process that once took years. “Early genomic screening is also transforming patient journeys. Instead of years of sequential testing, whole-exome or whole-genome sequencing can provide answers early in life. When genomic data is integrated with clinical records, imaging, and digital pathology, diagnostic time is significantly reduced. Meanwhile, health experts have highlighted the UAE’s role as a regional leader in advanced healthcare, especially in genetics and rare diseases. According to Mundada, “What distinguishes the UAE is its ability to scale innovation quickly. When supported by structured policy and digital integration, precision medicine does not remain confined to academic centres, it becomes part of national healthcare delivery.” · “The UAE is demonstrating how personalised medicine can move from concept to clinical reality, particularly for patients living with rare diseases,” added Thomas. By analysing a patient’s genetic makeup, doctors can determine the underlying cause of a condition more accurately and, in some cases, identify targeted therapies. “Precision medicine allows us to move beyond symptom-based treatment to gene-level diagnosis and targeted intervention.

Original title: “How precision medicine revolutionises rare disease treatment in UAE”

electrophysiological assessment of motor unit loss in adult spinal muscular atrophy types iii and iv a multicenter national study comparing munix cmap and musix

Original title: “Electrophysiological assessment of motor unit loss in adult spinal muscular atrophy types III and IV: a multicenter national study comparing MUNIX, CMAP, and MUSIX.”