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Open research questions in Neurogenetic and Muscular Disorders Research

147 gap statements mined from Neurogenetic and Muscular Disorders Research papers in our 4.5M-paper local library, which holds 694 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • Access to the lower abdomen for a transverse suprapubic incision is complicated and the usual surgical stance to perform the surgery needs to be reconsidered. The surgery itself needs to be gentle with sharp dissection abdominal entry, without the typical stretching of the abdominal wall incision routinely practiced by many obstetricians, to avoid extension of the incision due to tissue fragility.

    Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management · 2026 · DOI

  • There is a lack of reported cases of successful pregnancies in women with SMA type-1. Prior studies have not provided detailed insight into the management of pregnancy in women with SMA. There is a need for multi-speciality care for pregnant women with SMA to improve outcomes.

    Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management · 2026 · DOI

  • The need to develop effective biomarkers that accurately reflect disease severity and progression.

    Electrophysiological assessment of motor unit loss in adult spinal muscular atrophy types III and IV: a multicenter national study comparing MUNIX, CMAP, and MUSIX · 2026 · DOI

  • There is a need for effective biomarkers to monitor disease progression in adult spinal muscular atrophy. Current biomarkers may not accurately reflect the severity of the disease. The study aims to address this gap by comparing the effectiveness of MUNIX, CMAP, and MUSIX as biomarkers.

    Electrophysiological assessment of motor unit loss in adult spinal muscular atrophy types III and IV: a multicenter national study comparing MUNIX, CMAP, and MUSIX · 2026 · DOI

  • Long-term results of broad unselected populations, particularly adolescents and adults, remain limited. There is a need for population-based studies to evaluate nusinersen's long-term persistence and effectiveness. Center-based studies are susceptible to selection bias and confounding by indication.

    Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study · 2026 · DOI

  • Limited understanding of circulating Tau and pTau levels as potential biomarkers in SMA. Lack of comprehensive characterization of circulating Tau and phospho-Tau isoforms across pediatric and adult SMA cohorts.

    Profiling circulating Tau and phospho-Tau isoforms in pediatric and adult spinal muscular atrophy identifies selective elevation of pTau-262 in adults · 2026 · DOI

  • Limited sample size and statistical power. Variable treatment status introduces heterogeneity. Insufficient follow-up period to capture meaningful longitudinal change.

    Longitudinal spinal cord MRI in adult 5q-SMA: biomarker and pathophysiological insights · 2026 · DOI

  • There is a paucity of data regarding the impact of home-based respiratory physiotherapy on the respiratory trajectory of patients with SMA. The role of home-based respiratory physiotherapy as an adjunct to pharmacologic treatment in patients with spinal muscular atrophy remains underexplored.

    Impact of Home-Based Respiratory Physiotherapy in Nusinersen-Treated Patients with Spinal Muscular Atrophy · 2026 · DOI

  • Logistical challenges, such as the demands of modern biologics and the need for advanced delivery systems.

    Intrathecal Therapies for Neurodegenerative Diseases: A Review of Current Approaches and the Urgent Need for Advanced Delivery Systems · 2025 · DOI

  • One of the challenges is the heterogeneity of the patient population, with varying disease severity and response to treatment. Another challenge is the need for long-term follow-up to assess the durability of treatment effects. The paper also identifies the challenge of predicting therapeutic responses based on personalized factors, such as SMN2 copy number and other genetic modifiers.

    Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2 · 2025 · DOI

  • One of the challenges is the limitations of current diagnostic strategies, including invasive sampling methods and limited sensitivity. Another challenge is the need for comprehensive family haplotyping and targeted sequencing for non-invasive approaches. The paper also identifies regulatory and ethical challenges in fetal therapy, including ensuring safe and equitable care for both pregnant individuals and fetuses.

    Prenatal Management of Spinal Muscular Atrophy in the Era of Genetic Screening and Emerging Opportunities in In Utero Therapy · 2025 · DOI

  • The paper identifies the need for more efficient and targeted gene delivery systems for treating hereditary myopathies. It highlights the challenges associated with immune responses and hepatotoxicity in current gene therapy strategies. The gap in achieving 'single-dose, lifelong cure' paradigms for muscular disorders is also identified.

    Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives · 2025 · DOI

  • While multiple hypotheses have been put forward to explain the selective motor neurons (MNs) vulnerability to SMN deficiency, the precise mechanisms involved remain incompletely understood.

    Individual C. elegans neurons display differential sensitivity to smn- 1 silencing · 2026 · DOI

  • INTRODUCTION/AIMS: Natural history data for adult patients with spinal muscular atrophy (SMA) remain scarce, which is particularly relevant in the current therapeutic era.

    How to Best Measure Disease Progression in Adult Spinal Muscular Atrophy Patients: A Clinical and Neurophysiological Study · 2026 · DOI

  • INTRODUCTION/AIMS: While neurofilament light chain is a promising biomarker in spinal muscular atrophy (SMA), its dynamics in presymptomatic patients have not yet been determined.

    Plasma Neurofilament Light Chain as a Potential Biomarker of Presymptomatic Spinal Muscular Atrophy · 2026 · DOI

  • INTRODUCTION/AIMS: Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower-limb and proximal motor nerves remain insufficiently characterized.

    Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study · 2026 · DOI

  • These findings suggest subclinical hepatic involvement in carriers and support further investigation into the systemic impact of SMN deficiency.

    Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy · 2026 · DOI

  • INTRODUCTION/AIMS: The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient-reported outcome (PRO) measures.

    Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy · 2026 · DOI

  • Additional research on SMA population disparities and clinical trials that recruit from diverse populations and across the globe will help bridge the gap.

    Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy · 2026 · DOI

  • Early identification of Ptort and vigilance for the development of scoliosis are warranted even in treated infants.

    Postural Torticollis and Early‐Onset Scoliosis in Infants With SMA Identified Through Newborn Screening: Single Institution Experience · 2026 · DOI

  • INTRODUCTION/AIMS: Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA).

    A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies · 2026 · DOI

  • Larger, multi-center longitudinal studies incorporating harmonized sample processing and independent validation cohorts, - Further definition of the utility of Tau within a multidimensional SMA biomarker…

    Profiling circulating Tau and phospho-Tau isoforms in pediatric and adult spinal muscular atrophy identifies selective elevation of pTau-262 in adults · 2026 · DOI

  • Limited data from post-approval extension studies, - Heterogeneous cohort, - Most patients had three SMN2 copies, - Limited follow-up…

    Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2 · 2025 · DOI

  • Future clinical trials, anchored in definitive prenatal diagnosis - Evaluation of experimental prenatal treatment modalities - Critical evaluation within health technology assessment (HTA)…

    Prenatal Management of Spinal Muscular Atrophy in the Era of Genetic Screening and Emerging Opportunities in In Utero Therapy · 2025 · DOI

  • AI-driven vector design, - hybrid systems (AAV–exosomes), - standardized manufacturing to achieve “single-dose, lifelong cure” paradigms for muscular…

    Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives · 2025 · DOI

Most-cited papers in Neurogenetic and Muscular Disorders Research

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Open questions raised by papers listed on this page include: (1) There is a lack of reported cases of successful pregnancies in women with SMA type-1 (“Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal…”, 2026); (2) There is a need for effective biomarkers to monitor disease progression in adult spinal muscular atrophy (“Electrophysiological assessment of motor unit loss in adult spinal muscular…”, 2026); (3) Long-term results of broad unselected populations, particularly adolescents and adults, remain limited (“Long-term persistence, safety and effectiveness of nusinersen in spinal…”, 2026); (4) Lack of comprehensive characterization of circulating Tau and phospho-Tau isoforms across pediatric and adult SMA cohorts (“Profiling circulating Tau and phospho-Tau isoforms in pediatric and adult…”, 2026); (5) There is a paucity of data regarding the impact of home-based respiratory physiotherapy on the respiratory trajectory of patients with SMA (“Impact of Home-Based Respiratory Physiotherapy in Nusinersen-Treated Patients…”, 2026). 147 gap statements have been mined from Neurogenetic and Muscular Disorders Research papers in our 4.5M-paper local library, which holds 694 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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