Lizan Stinissen, Joost Kools, Sietse Bouma, Emma Lenssen, Eline Sanders, Anke Lanser, Ria de Haas, Baziel Gm van Engelen, Wija Oortwijn, Nicol C Voermans
{"title":"The participants' perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands - A qualitative study.","authors":"Lizan Stinissen, Joost Kools, Sietse Bouma, Emma Lenssen, Eline Sanders, Anke Lanser, Ria de Haas, Baziel Gm van Engelen, Wija Oortwijn, Nicol C Voermans","doi":"10.1177/22143602241313117","DOIUrl":"10.1177/22143602241313117","url":null,"abstract":"<p><strong>Background: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease without an available cure. The first trials with potentially disease-modifying therapies have started, including a phase ll open-label study and a phase lll double-blind randomized placebo-controlled trial assessing the safety and efficacy of losmapimod. Having a more in-depth understanding of the patient's experience of these trials will further enhance the design and recruitment of future trials.</p><p><strong>Objective: </strong>To explore the motivation, expectations, concerns, and experiences of FSHD patients in the first clinical trials in the Netherlands resulting in recommendations for future trials.</p><p><strong>Methods: </strong>Semi-structured interviews with participants of phase II and III losmapimod trials were conducted. The interview guide was based on previous conducted literature reviews and consultation of a patient representative. Participants were selected through convenience sampling. Four main themes were discussed: motivation for participation, expectations regarding study drug and trial visits, trial participation experience, and recommendations for future trials. The interviews were transcribed, anonymized, and analyzed using Atlas.ti version 23.1.1 using a deductive approach.</p><p><strong>Results: </strong>Thirteen participants were interviewed; six phase II participants and seven phase III participants. The primary motivations to participate concerned altruistic motives, contribute to science or improve their own health status. The participants had realistic expectations of the effect of the study drug before trial participation. Overall, participants were positive about their trial participation. Specifically, the personal and transparent communication within a trusting and dedicated trial team was appreciated. The phase III participants reported a higher than expected psychological burden on participating in a placebo-controlled trial. Recommendations consisted of more frequent updates on the overall progress and results of the trials.</p><p><strong>Conclusions: </strong>This study presents the participants' perspective on FSHD trials, providing important key findings for future clinical trial design, study site practices and patient education.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"382-393"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Meghana Bomma, Donovan Lott, Sean Forbes, Renata Shih, John-Anthony Coppola, Jeffrey W Christle, Tina Duong, Joseph Russo, Aditi Pant, Carmen Leon-Astudillo, Julie Berthy, Christina Cousins, Manuela Corti, Barry Byrne, James May, W Xue, Tanja Taivassalo
{"title":"Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy.","authors":"Meghana Bomma, Donovan Lott, Sean Forbes, Renata Shih, John-Anthony Coppola, Jeffrey W Christle, Tina Duong, Joseph Russo, Aditi Pant, Carmen Leon-Astudillo, Julie Berthy, Christina Cousins, Manuela Corti, Barry Byrne, James May, W Xue, Tanja Taivassalo","doi":"10.1177/22143602251319170","DOIUrl":"10.1177/22143602251319170","url":null,"abstract":"<p><strong>Background: </strong>Cardiopulmonary exercise testing (CPET) is the gold-standard for quantification of peak oxygen uptake (VO<sub>2</sub>) and cardiorespiratory and muscle responses to exercise. Its application to Duchenne muscular dystrophy (DMD) has been scarce due to the notion that muscle weakness inherent to disease restricts the cardiorespiratory system from reaching maximal capacity.</p><p><strong>Objective: </strong>To investigate the utility of CPET in DMD by 1) establishing whether patients can perform maximal-effort exercise for valid VO<sub>2</sub> peak assessment; 2) quantifying VO<sub>2</sub> peak repeatability; 3) characterizing muscle and cardiorespiratory responses; 4) comparing VO<sub>2</sub> peak to 6-min walk distance (6MWD).</p><p><strong>Methods: </strong>Twenty-seven DMD and eight healthy boys (6 years and older) underwent CPET using an incremental work-rate protocol for leg (ambulatory) or arm (non-ambulatory) cycling with measurement of heart rate (HR) and gas-exchange variables from rest to maximal-effort. The oxygen cost of work (ΔVO<sub>2</sub>/Δwork-rate) was calculated, and peak exercise parameters (VO<sub>2</sub>, HR, O<sub>2</sub> pulse, ventilation (VE) and ventilatory threshold (VT)) were considered valid if the respiratory exchange ratio ≥1.01.</p><p><strong>Results: </strong>VO<sub>2</sub> peak was valid (81.5% of patients), repeatable (intraclass correlation coefficient = 0.998) and low in ambulatory and non-ambulatory DMD compared to controls (19.0 ± 6.0; 10.7 ± 2; 35.2 ± 4.5 mL/kg/min respectively). VT was low (30.8 ± 10.7; 19.4 ± 3.0; 61.2 ± 6.9% VO<sub>2</sub> peak) reflecting significant muscle metabolic impairment. Peak HR in ambulatory-DMD (172 ± 14 bpm) was similar to controls (183 ± 8.3 bpm), but O<sub>2</sub> pulse was low (3.4 ± 1.0; 6.5 ± 1.1 mL/beat). Peak VE/VO<sub>2</sub> (ambulatory = 42.1 ± 6.8; non-ambulatory = 42.2 ± 7.8; controls = 34.3 ± 4.6) and ΔVO<sub>2</sub>/Δwork-rate were elevated (ambulatory = 12.4 ± 4.9; non-ambulatory = 19.0 ± 9.7; controls = 10.1 ± 0.8) revealing ventilatory and mechanical inefficiency. Despite strong correlation between VO<sub>2</sub> peak and 6MWD, severity of impairment was discordant.</p><p><strong>Conclusion: </strong>Valid CPET is feasible in DMD, revealing low VO<sub>2</sub> peak due to abnormal muscle metabolic and cardiorespiratory responses during dynamic exercise. CPET reveals cardiorespiratory limitations in DMD boys with unremarkable 6MWD, and should be considered an integrative approach in clinical care and assessment of emerging therapeutics.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"408-423"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maureen A Lefton-Greif, Lisa Belter, Jill Jarecki, Mary Schroth, Yong Zeng, Thomas O Crawford, Cyd Eaton
{"title":"Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale.","authors":"Maureen A Lefton-Greif, Lisa Belter, Jill Jarecki, Mary Schroth, Yong Zeng, Thomas O Crawford, Cyd Eaton","doi":"10.1177/22143602251325741","DOIUrl":"10.1177/22143602251325741","url":null,"abstract":"<p><p><b>Background:</b> Bulbar dysfunction is a well-recognized burden experienced by individuals with spinal muscular atrophy (SMA). Metrics that capture the impact of these problems are lacking. <b>Objectives:</b> To develop and validate an SMA-Bulbar Scale that captures and quantifies patient-reported experiences with bulbar dysfunction. <b>Methods:</b> Cure SMA database members were invited to complete online surveys and a 31-item Bulbar Scale developed by the authors with reference to both bulbar dysfunction in the literature and consultations with SMA-dedicated health care providers, pharmaceutical companies, and persons affected by SMA. <b>Results:</b> 166 adults with SMA reported a range of bulbar dysfunctions. The most common problems, occurring more than 80% of the time, were prolonged meal times, difficulty with mouth opening, and swallowing pills. In addition, 10% of the respondents reported a worsening feeding function over the course of their lives. Across the diverse array of bulbar functions, exploratory and confirmatory factor analyses of responses identified three coherent dimensions of bulbar dysfunction: Swallowing; Mealtimes and Communication; and Breath Sounds, Speech, Voice, and Secretion Management. Higher scores of overall bulbar dysfunction, (p < .001) and each factor (p < .001), were reported by respondents with any degree of feeding restrictions. Sex, age, or use of SMA disease-modifying treatment did not correlate with bulbar scores. <b>Conclusions:</b> This patient-reported scale of bulbar function in adults with a wide range of SMA severity captures and quantifies the variable manifestations of experienced bulbar impairment. With preliminary evidence of validity, the scale supports efforts to standardize accurate identification of bulbar dysfunction, incorporate the perspectives of people with SMA on key areas of their daily functioning, provide metrics essential for meaningful endpoints in clinical trials, inform practice guidelines, and promote advancement of the regulatory science needed for the evaluation and development of therapeutic interventions. Identification of three coherent dimensions of bulbar dysfunction may improve further investigations.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"394-407"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.","authors":"Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Gautham Arunachal, Kosha Srivastava, Vaishnavi Desai, Priya Treesa Thomas, Muddasu Suhasini Keerthipriya, Akshata Huddar, Gopikrishnan Unnikrishnan, Ram Murthy Anjanappa, Atchayaram Nalini","doi":"10.1177/22143602241313119","DOIUrl":"10.1177/22143602241313119","url":null,"abstract":"<p><strong>Introduction: </strong>Titinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably and caused by Titin (<i>TTN)</i> gene mutations located in Chromosome 2. The manifestations extend from congenital to adult-onset myopathies. Here we describe the phenotype-genotype heterogeneity of patients with myopathy/muscular dystrophy associated with TTN variants in an Indian cohort.</p><p><strong>Methods: </strong>A retrospective descriptive study of 12 patients diagnosed with primary muscle disease evaluated between 2016 and 2023 harboring rare <i>TTN</i> variants.</p><p><strong>Results: </strong>Eight patients were included (M:F ratio - 3:1). The median age at onset of entire cohort is 5 (range: birth- 33 years). The major clinical phenotypes were congenital myopathy [n = 3, 37.5%], juvenile onset myopathy [n = 3, 37.5%] and adult AD - Hereditary myopathy with early respiratory failure (HMERF) phenotype [n = 2, P6, P8; 25%]. Prominent / wide first interdigital space in feet in congenital and juvenile forms (c.38421_38437delinsC, c.106531 + 1G > A) was a novel feature. The variant c.95134T > C previously reported in HMERF in British population, was noted in two patients in our cohort and with GNE myopathy like phenotype in one. Muscle MRI done in congenital myopathy (c.26201-1G > A) showed fatty infiltration of anterior and posterior thigh with sparing of gracilis, adductor magnus and tibialis anterior.</p><p><strong>Conclusion: </strong>This is the first Indian study with a large cohort demonstrating many novel mutations and clinical heterogeneity expanding the spectrum of titinopathies.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"364-371"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Abstracts of the 18<sup>th</sup> UK Neuromuscular Translational Research Conference 15<sup>th</sup> and 16<sup>th</sup> April 2025.","authors":"","doi":"10.1177/22143602251330726","DOIUrl":"https://doi.org/10.1177/22143602251330726","url":null,"abstract":"","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1_suppl","pages":"S3-S77"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Corrigendum to \"Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1\".","authors":"","doi":"10.1177/22143602251333751","DOIUrl":"https://doi.org/10.1177/22143602251333751","url":null,"abstract":"","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251333751"},"PeriodicalIF":3.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carmen Leon-Astudillo, Kirsten Coleman, Stephanie M Salabarria, Vivian Valcarce, Lauren Stewart Stafford, Joseph Larkin, Josef Neu, Manuela Corti, Barry J Byrne
{"title":"Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy.","authors":"Carmen Leon-Astudillo, Kirsten Coleman, Stephanie M Salabarria, Vivian Valcarce, Lauren Stewart Stafford, Joseph Larkin, Josef Neu, Manuela Corti, Barry J Byrne","doi":"10.1177/22143602251324857","DOIUrl":"https://doi.org/10.1177/22143602251324857","url":null,"abstract":"<p><p>BackgroundThe application of recombinant adeno associated virus (rAAV) in gene therapy is accepted as an effective strategy for the treatment of monogenic diseases. However, eligibility for such therapies is contingent upon the absence or minimal presence of antibodies against adeno-associated virus (AAV) capsid protein. While the passive transfer of maternal immunoglobulins in utero is well established, the potential impact of maternal antibodies transferred via breastfeeding remains less explored.ObjectiveThis study aims to quantify and compare the levels of anti-AAV9 and anti-AAVrh74 immunoglobulin G (IgG) and M (IgM) in both plasma and human milk from a group of healthy lactating mothers.MethodsIn this cross-sectional study, we analyzed plasma and human milk samples from healthy lactating mothers. We used an enzyme linked immunosorbent assay (ELISA) to determine the levels of circulating IgG and IgM antibodies against AAV9 and AAVrh74 capsids and compared their concentrations in the paired samples.ResultsThirty-one paired plasma and human milk samples were analyzed. The median age at participation was 34 years (range: 25-43), median duration of breastfeeding at the time of sample collection was 7.5 months (range:0.7-33), and median body mass index was 23 Kg/m<sup>2</sup> (range: 19.7-35.4). Median anti-AAV9 IgG in plasma and human milk, were 183 U/mL (range: 29-7214) and 1 U/mL (range: 1-33), respectively. Median anti-AAVrh74 IgG, in plasma and human milk were 138 U/mL (range: 23-8725) and 1 U/mL (range: 1-27), respectively. The differences in anti-AAV9 and anti-AAVrh74 IgG levels between plasma and human milk were statistically significant (p < 0.0001). Additionally, a strong correlation (r: 0.97, p: < 0.0001) was observed between anti-AAV9 and anti-AAVrh74 IgG levels in plasma.ConclusionsThe levels of anti-AAV9 and anti-AAVrh74 antibodies in human milk are remarkably lower than those in plasma. Consequently, breastfeeding should not be restricted for term infants who are potential candidates for AAV-related gene therapy products.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251324857"},"PeriodicalIF":3.2,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Isaac R L Xu, Matt C Danzi, Jacquelyn Raposo, Stephan Züchner
{"title":"The continued promise of genomic technologies and software in neurogenetics.","authors":"Isaac R L Xu, Matt C Danzi, Jacquelyn Raposo, Stephan Züchner","doi":"10.1177/22143602251325345","DOIUrl":"10.1177/22143602251325345","url":null,"abstract":"<p><p>The continued evolution of genomic technologies over the past few decades has revolutionized the field of neurogenetics, offering profound insights into the genetic underpinnings of neurological disorders. Identification of causal genes for numerous monogenic neurological conditions has informed key aspects of disease mechanisms and facilitated research into critical proteins and molecular pathways, laying the groundwork for therapeutic interventions. However, the question remains: has this transformative trend reached its zenith? In this review, we suggest that despite significant strides in genome sequencing and advanced computational analyses, there is still ample room for methodological refinement. We anticipate further major genetic breakthroughs corresponding with the increased use of long-read genomes, variant calling software, AI tools, and data aggregation databases. Genetic progress has historically been driven by technological advancements from the commercial sector, which are developed in response to academic research needs, creating a continuous cycle of innovation and discovery. This review explores the potential of genomic technologies to address the challenges of neurogenetic disorders. By outlining both established and modern resources, we aim to emphasize the importance of genetic technologies as we enter an era poised for discoveries.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251325345"},"PeriodicalIF":3.2,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Crystal Jing Jing Yeo, Savitha Ramasamy, F Joel Leong, Sonakshi Nag, Zachary Simmons
{"title":"A neuromuscular clinician's primer on machine learning.","authors":"Crystal Jing Jing Yeo, Savitha Ramasamy, F Joel Leong, Sonakshi Nag, Zachary Simmons","doi":"10.1177/22143602251329240","DOIUrl":"https://doi.org/10.1177/22143602251329240","url":null,"abstract":"<p><p>Artificial intelligence is the future of clinical practice and is increasingly utilized in medical management and clinical research. The release of ChatGPT3 in 2022 brought generative AI to the headlines and rekindled public interest in software agents that would complete repetitive tasks and save time. Artificial intelligence/machine learning underlies applications and devices which are assisting clinicians in the diagnosis, monitoring, formulation of prognosis, and treatment of patients with a spectrum of neuromuscular diseases. However, these applications have remained in the research sphere, and neurologists as a specialty are running the risk of falling behind other clinical specialties which are quicker to embrace these new technologies. While there are many comprehensive reviews on the use of artificial intelligence/machine learning in medicine, our aim is to provide a simple and practical primer to educate clinicians on the basics of machine learning. This will help clinicians specializing in neuromuscular and electrodiagnostic medicine to understand machine learning applications in nerve and muscle ultrasound, MRI imaging, electrical impendence myography, nerve conductions and electromyography and clinical cohort studies, and the limitations, pitfalls, regulatory and ethical concerns, and future directions. The question is not whether artificial intelligence/machine learning will change clinical practice, but when and how. How future neurologists will look back upon this period of transition will be determined not by how much changed or by how fast clinicians embraced this change but by how much patient outcomes were improved.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251329240"},"PeriodicalIF":3.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Richard H Roxburgh, Alana Cavadino, Miriam Rodrigues, Sharron Meadows, Juliette Meyer, Gina O'Grady
{"title":"Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand.","authors":"Richard H Roxburgh, Alana Cavadino, Miriam Rodrigues, Sharron Meadows, Juliette Meyer, Gina O'Grady","doi":"10.1177/22143602251319165","DOIUrl":"https://doi.org/10.1177/22143602251319165","url":null,"abstract":"<p><strong>Background: </strong>The advent of three effective disease modifying therapies for SMA has highlighted the need to understand the epidemiology of spinal muscular atrophy (SMA) and its disability impact.</p><p><strong>Objective: </strong>We aimed to establish the nationwide incidence and prevalence of SMA in Aotearoa-New Zealand, and to estimate the patients' disability and the impact of this on health resource utilisation.</p><p><strong>Methods: </strong>We used multiple sources to identify patients with SMA and verified the diagnosis, disabilities and resources utilisation by review of the individual patient notes and genetic results. The four year incidence period was from 1st July 2015 to 30th June 2019. Prevalence date was 1st March 2019. Of note, this time period pre-dated access to disease modifying therapy in New Zealand. Census data for 2018 was used for denominators. Descriptive statistics and capture-recapture were used to analyse the data. For context, we reviewed international SMA epidemiology.</p><p><strong>Results: </strong>The incidence per 100,000 live births was 8.0 (95% confidence interval (CI): 4.8-12.5). The standardised prevalence rate of SMA on 1st March 2019 was 1.78 per 100,000 (95% CI: 1.24, 2.33). Prevalence was significantly lower amongst Māori at 0.34 (95% CI: 0.08, 1.13; p = 0.006). Substantial decline from best motor milestone performance was seen; seven patients with SMA1 died without access to disease modifying therapy. 74% of the total cohort used wheelchairs. 23% required respiratory support. 62% had scoliosis, of whom 61% had had surgery. Surviving SMA1 patients had very high health service utilisation.</p><p><strong>Conclusions: </strong>Incidence and prevalence figures match closely with international studies. This is the first record of low SMA rates in Māori. While the largest burden of disease falls on patients with SMA1 and 2 there is still substantial use of health resources among SMA3 and SMA4 patients.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251319165"},"PeriodicalIF":3.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}