ArticleAnnals of clinical and translational neurology2020
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Clinical and functional outcome measures in LAMA2-related muscular dystrophy and SELENON-related myopathy; a 1.5-year natural history study.Journal of neuromuscular diseases · 2026Article
- Dual AAV gene therapy using laminin-linking proteins ameliorates muscle and nerve defects in LAMA2-related muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- The role of genetics and molecular mechanisms in early onset scoliosis.Journal of clinical orthopaedics and trauma · 2026Review
- A novel mouse model foreLife · 2025Article
- A Spectrum of Pathogenic Variants in theInternational journal of molecular sciences · 2025Article
- An international retrospective early natural history study of LAMA2-related dystrophies.Journal of neuromuscular diseases · 2024Article
- Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.Neurogenetics · 2024Article
- Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice.Scientific reports · 2024Article
- Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.Neurology. Genetics · 2024Article
- Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.Neurogenetics · 2024Article
- A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.Journal of neuromuscular diseases · 2024Article
- Article
- Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy.Disease models & mechanisms · 2023Article
- Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.Journal of neuromuscular diseases · 2023Observational
- Merosin-deficient congenital muscular dystrophy type 1a: detection ofFrontiers in genetics · 2023Article
- Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.BMC neurology · 2021Article
- Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.Orphanet journal of rare diseases · 2021Article
- Corrigendum.Annals of clinical and translational neurology · 2021Article
- Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands.Neuromuscular disorders : NMD · 2021Article
Corrections and comments
- Erratum issuedCorrigendum.2021
Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo characterize natural history of Laminin-α2 related muscular dystrophies (LAMA2-RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering.
methodsWe conducted a retrospective, single-center, cross-sectional and longitudinal study on 46 LAMA2-RD pediatric patients (37 families). Patients were seen at the Dubowitz Neuromuscular Centre, London between 1985 and 2019. Data were collected by case note reviews. Time-to-event analysis was performed to estimate median age at complications occurrence.
resultsForty two patients had complete deficiency of Laminin-α2 (CD) and four had partial deficiency (PD). Median age at first and last assessment was 2 years and 12.1 years, respectively. Median follow-up length was 7.8 years (range 0-18 years). Seven CD patients died at median age 12 years. One CD and two PD subjects achieved independent ambulation. We observed a linear increase in elbow flexor contractures in CD subjects. Thirty-two CD and one PD patient developed scoliosis, nine underwent spinal surgery. Twenty-two CD required nocturnal noninvasive ventilation (median age 11.7 years). CD subjects showed a 2.9% linear annual decline in forced vital capacity % predicted. Nineteen CD and one PD patient required gastrostomy insertion for failure to thrive and/or unsafe swallow (median age 10.9 years). Four CD patients had partial seizures. Mild left cardiac ventricular dysfunction and rhythm disturbances were identified in seven CD patients.
interpretationThis retrospective longitudinal study provides long-term natural history of LAMA2-RD. This will help management and identification of key milestones of disease progression that could be considered for future therapeutic intervention.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.