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  • ||||||||||  Evrysdi (risdiplam) / Roche
    Journal:  The drug-elicitable alternative splicing module for tunable vector expression in the heart. (Pubmed Central) -  Jul 14, 2025   
    Here we develop the drug-elicitable alternative splicing module (DreAM), which is responsive to risdiplam, a Food and Drug Administration-approved alternative splicing modulator...A dedifferentiation-proliferation-redifferentiation cycle was established in adult cardiomyocytes, improving cardiac regeneration after myocardial infarction while limiting animal death, AAV9-Tnnt2 expression in the liver and hepatic tumorigenesis. Therefore, DreAM may enhance the efficacy, safety and scope of gene therapy.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / Roche, Spinraza (nusinersen) / Biogen
    Journal:  REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. (Pubmed Central) -  Jul 8, 2025   
    Three innovative disease-modifying therapies (DMTs)-nusinersen, risdiplam, and onasemnogene abeparvovec-are available for treatment.ObjectiveTo provide a descriptive overview of patients enrolled in the Registre SMA France until July 22, 2024.MethodsRegistre SMA France is a multicenter, national observational registry that includes patients with SMA-children and adults, treated or untreated...Major complications included ventilatory support (SMA1: 69.9%, SMA2: 64.5%, SMA3: 18.1%), enteral feeding (SMA1: 56.2%SMA1), and spine surgery (SMA2: 24.5%). Survival was significantly higher in treated SMA1 and SMA2 cases.ConclusionThis registry serves as a key resource for understanding the clinical course and treatment outcomes of SMA in the real world, supporting future research and informing clinical and policy decisions in the era of DMTs.Trial registrationNCT04177134.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / Roche, Spinraza (nusinersen) / Biogen
    Review, Journal:  Switching disease-modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes. (Pubmed Central) -  Jun 20, 2025   
    Eligible studies included clinical trials and real-world evidence (RWE) reports describing patients with genetically confirmed SMA who received nusinersen or risdiplam and subsequently switched to nusinersen, risdiplam or onasemnogene abeparvovec...However, long-term outcomes and standardized data were limited. Future research should prioritize robust RWE and post-marketing surveillance to evaluate long-term safety and effectiveness, incorporate standardized switching protocols, and account for SMA genotype-phenotype variation.
  • ||||||||||  Evrysdi (risdiplam) / Roche, Spinraza (nusinersen) / Biogen
    New trial:  REACH: Adult SMA Research and Clinical Hub (clinicaltrials.gov) -  May 19, 2025   
    P=N/A,  N=600, Recruiting, 
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / Roche, Spinraza (nusinersen) / Biogen
    P4 data, Journal, Adverse drug reaction:  Post-Marketing Safety of Spinal Muscular Atrophy Therapies: Analysis of Spontaneous Adverse Drug Reactions from EudraVigilance. (Pubmed Central) -  May 14, 2025   
    Background/Objectives: Spinal muscular atrophy (SMA) treatment has evolved with the approval of nusinersen, onasemnogene abeparvovec, and risdiplam...ADRs related to SMA complications require careful differentiation from true drug-related effects. Future pharmacovigilance efforts should focus on long-term safety assessments and real-world evidence to optimize treatment strategies.
  • ||||||||||  ciprofloxacin oral / Generic mfg., Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche
    Journal:  NMR analysis of interaction between RNA structure elements and small molecules. (Pubmed Central) -  Apr 28, 2025   
    Among the three compounds, NCD shows relatively stronger affinity to some of the model RNAs as judged by the NMR spectra, and binding sites of NCD for two RNAs were determined. The measurement condition used in this work, including the annealing free sample preparation as well as the Mg2+ free sodium phosphate buffer, can be the standard for initial the NMR screening in the RNA-targeted small molecule drug discovery.
  • ||||||||||  Evrysdi (risdiplam) / Roche
    Tunable Gene Control via RNA Splicing with Clinically Approved Small Molecule (Poster Hall) -  Apr 27, 2025 - Abstract #ASGCT2025ASGCT_2088;    
    The measurement condition used in this work, including the annealing free sample preparation as well as the Mg2+ free sodium phosphate buffer, can be the standard for initial the NMR screening in the RNA-targeted small molecule drug discovery. We have developed a novel small molecule
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Journal:  Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies. (Pubmed Central) -  Apr 20, 2025   
    One patient switched from nusinersen to risdiplam at age 4 years (died 19 months later) and 1 received onasemnogene abeparvovec at 2 years old (died 10 months later)...Standard of care for respiratory management and ceiling of care discussions should continue to be a key part of the overall management particularly in those with severe disease at onset. These outcomes will be considerably improved once newborn screening will be available also in the UK.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche
    Journal:  Early Treatment in Preterm Twins With Spinal Muscular Atrophy. (Pubmed Central) -  Apr 16, 2025   
    They were treated with risdiplam followed by onasemnogene abeparvovec at a gestational age of 35 and 43 weeks, respectively. This case adds to the limited data on treatment options for preterm infants.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Review, Journal:  Pushing the boundaries: future directions in the management of spinal muscular atrophy. (Pubmed Central) -  Apr 10, 2025   
    These therapies - with distinct mechanisms, routes of administration, dosing schedules, side effect profiles, and financial costs - have dramatically altered the clinical phenotypes of this condition and have presented fresh challenges for patient care. In this review article we discuss potential strategies to maximise clinical outcomes through early diagnosis and treatment, optimised dosing, use of therapeutic combinations and state-of-the-art physiotherapy techniques, and the development of innovative therapies targeting alternative mechanisms.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / Roche, Spinraza (nusinersen) / Biogen
    The Impact of Family Spillover Effects in Economic Evaluation for SMA Type 1 Treatments in the United States () -  Mar 24, 2025 - Abstract #ISPOR2025ISPOR_755;    
    The addition of FSE for primary informal caregivers of children with SMA Type 1 led to a projected 54% reduction in the base-case ICER. Future CEAs should explore FSE using available caregiver data and productivity algorithms to estimate treatment impacts and value for the family.
  • ||||||||||  Evrysdi (risdiplam) / Roche, Spinraza (nusinersen) / Biogen
    Research on finger movements in patients with spinal muscular atrophy (Poster venue (Osaka International Convention Center 3F Event Hall)) -  Mar 23, 2025 - Abstract #JSNE2025JSNE_1046;    
    The total number of tappings ranged from 60 to 202 (137.6, 44.6) before treatment and 89 to 197 (142.7, 38.3) after treatment (NS). An increase of 5% or more in the number of evaluations at the start of treatment was defined as an increase, and a decrease of 5% or more was defined as a decrease.
  • ||||||||||  Evrysdi (risdiplam) / Roche, Spinraza (nusinersen) / Biogen
    Japan REgistry for Adult subjeCTs of Spinal Muscular Atrophy (jREACT-SMA): 2-Year Interim Results (Venue 08 (Osaka International Convention Center, 12F, Grand Toc)) -  Mar 23, 2025 - Abstract #JSNE2025JSNE_563;    
    We collected 2-year data of adult patients with SMA and conducted the interim analysis of motor function and QOL. The details and longitudinal impact of adulthood treatment will be discussed.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Retrospective data, Review, Journal:  The Effect of Disease-Modifying Therapies on Lung Function and Respiratory Muscle Strength in Spinal Muscular Atrophy: Systematic Review and Meta-Analysis. (Pubmed Central) -  Mar 3, 2025   
    The disease-modifying therapies (DMTs) (nusinersen, onasemnogene abeparvovec, and risdiplam) have improved survival, motor function, and functional muscle strength in patients with SMA, but their effects on lung function and respiratory muscle strength need further clarification...There was no statistically significant decline in lung function and respiratory muscle strength after treatment. This may suggest that nusinersen may have stabilized lung function and respiratory muscle strength.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Journal:  Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: (Pubmed Central) -  Mar 1, 2025   
    In other words, the SMN protein supplied from the mother to the foetus may suppress the development of SMA in the infant at birth, and depletion of the SMN protein may occur after birth, causing the infant to develop SMA. Our findings demonstrated the effectiveness of newborn screening and the potential of maternally mediated treatment strategies by providing a rationale for prompt treatment initiation in SMA.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche
    Retrospective data, Journal:  Safety of Onasemnogene Abeparvovec Administration to Type 1 SMA Patients Who Have Received Risdiplam. (Pubmed Central) -  Feb 26, 2025   
    Three therapies are now available for the treatment of type 1 spinal muscular atrophy: onasemnogene abeparvovec (OA), nusinersen, and risdiplam...No unexpected adverse event was demonstrated post-OA in patients stopping risdiplam a day before OA infusion. Data presented here suggest that stopping risdiplam a day before OA treatment did not seem to be associated with increased risk.
  • ||||||||||  Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Combined Pulmonary and Neurology Clinic - One Center's Experience With Spinal Muscular Atrophy (Area B, Hall F (North Building, Exhibition Level), Moscone Center; Poster Board # P190) -  Feb 24, 2025 - Abstract #ATS2025ATS_3325;    
    Future plans involve continuous assessment of the impact of these interventions including pulmonary function testing, growth and development, exacerbations, and the development of co-morbid conditions. The small number of patients likely limited the ability to detect a noticeable difference between treatment groups.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Journal:  Newborn screening programs for spinal muscular atrophy worldwide in 2023. (Pubmed Central) -  Feb 20, 2025   
    The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Review, Journal:  Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function. (Pubmed Central) -  Feb 20, 2025   
    Therefore, the tools, scales, methods, and timing used for bulbar function assessments varied among studies. Larger prospective studies using standardized and age-based assessments with longer follow-up periods are needed to assess the clinical stability of bulbar function for patients with SMA who receive DMTs.
  • ||||||||||  Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche
    Journal:  Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy. (Pubmed Central) -  Feb 19, 2025   
    Larger prospective studies using standardized and age-based assessments with longer follow-up periods are needed to assess the clinical stability of bulbar function for patients with SMA who receive DMTs. No abstract available
  • ||||||||||  Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Trial completion date, Trial primary completion date:  Holter of Movement in Patients with SMA Undergoing Treatment. (clinicaltrials.gov) -  Feb 12, 2025   
    P=N/A,  N=30, Active, not recruiting, 
    No abstract available Trial completion date: Jul 2024 --> May 2025 | Trial primary completion date: Jul 2024 --> Jan 2025
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche
    Journal, HEOR, Gene therapy:  Onasemnogene Abeparvovec Gene Therapy and Risdiplam for the Treatment of Spinal Muscular Atrophy in Thailand: A Cost-Utility Analysis. (Pubmed Central) -  Feb 10, 2025   
    Policy-makers should incorporate various pieces of evidence alongside the cost-effectiveness results for rare diseases with costly drugs. Additionally, cost-effectiveness findings are useful for price negotiations and alternative financial funding, which allows policy-makers to seek solutions to ensure patient access, aligning with universal health coverage principles in Thailand.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Journal, Real-world evidence, Real-world:  Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil. (Pubmed Central) -  Jan 6, 2025   
    Additionally, cost-effectiveness findings are useful for price negotiations and alternative financial funding, which allows policy-makers to seek solutions to ensure patient access, aligning with universal health coverage principles in Thailand. This real-world study reinforces the effectiveness of disease-modifying therapies for SMA in Brazil within the context of low- and middle-income countries, which is greater the earlier and the better the patient's functional status.
  • ||||||||||  Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche
    Journal:  Spinal muscular atrophy is also a disorder of spermatogenesis. (Pubmed Central) -  Dec 21, 2024   
    Understanding spermatogenesis in SMA is crucial, especially with new therapies such as risdiplam. Consequently, conducting systematic spermogram studies prior to SMA treatment is recommended.
  • ||||||||||  Zolgensma (onasemnogene abeparvovec-xioi) / Novartis, Evrysdi (risdiplam) / SMA Foundation, PTC Therap, Roche, Spinraza (nusinersen) / Biogen
    Journal, HEOR:  Cost-utility analysis of newborn screening for spinal muscular atrophy in Japan. (Pubmed Central) -  Dec 18, 2024   
    Best supportive care was not considered, and Japan-specific variations in gene replacement therapy protocol were not fully reflected. NBS for SMA allows for early identification of patients with SMA and treatment initiation before symptom onset, improving health outcomes and reducing total costs than without NBS.