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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.”
The first patient has been dosed in a phase 1/2 trial of GB221, an SMA gene therapy delivered via intra-cisterna magna injection. The US Food and Drug Administration (FDA) has granted the therapy Rare Pediatric Disease designation. FDA approval of GB221 could qualify Gemma Biotherapeutics for a Priority Review Voucher. SMA is a rare neurodegenerative disorder involving progressive muscle weakness and loss of movement. Until 2016, management focused on supportive care and overall quality of life. The identification of SMN1 abnormalities as the underlying cause of SMA enabled development of targeted treatments, 4 of which have obtained FDA approval. The gene therapy utilizes a proprietary serotype hu68 adeno-associated virus vector. It carries a codon-optimized SMN1 transgene, which is contained within an expression cassette modified to limit overexpression and sensory neurotoxicity. CHARISMA is the first clinical trial to evaluate an SMA type 1 gene therapy delivered via the cisterna magna route. GB221 is the first SMA type 1 gene therapy delivered via intra-cisterna magna injection to reach the clinical trial stage. Close more info about First Patient Dosed in Clinical Trial of GB221, Next-Generation Gene Therapy for SMA Type 1
Original title: “First Patient Dosed in Clinical Trial of GB221, Next-Generation Gene Therapy for SMA Type 1”
proteomics dataset of liver tissue from spinal muscular atrophy heterozygous and wild type mice enabling pathway identification
Original title: “Proteomics dataset of liver tissue from spinal muscular atrophy, heterozygous, and wild-type mice, enabling pathway identification.”
summary of research risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy a multicenter case series
Original title: “Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case Series.”
skeletal muscle in spinal muscular atrophy critical insights from pathogenesis to therapeutic strategies
Original title: “Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies.”
The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia,… Continue reading Stories of Our Little Heroes The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia, Charcot-Marie syndrome, and others. This video was filmed featuring our beneficiaries for Rare Disease Day to raise awareness of Duchenne muscular dystrophy.
Original title: “Stories of Our Little Heroes - Rare Disease Day 2026”
The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia,… Continue reading Story of our little heroes The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia, Charcot-Marie syndrome, and others. This video was filmed featuring our beneficiaries for Rare Disease Day to raise awareness of Duchenne muscular dystrophy.
Original title: “Story of our little heroes - Rare Disease Day 2026”
swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls the prospective controlled dysma trial
Original title: “Swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls: the prospective controlled DySMA trial.”
clinical diagnosis and genetic analysis of a rare case of duchenne muscular dystrophy and spinal muscular atrophy
Original title: “Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.”