ArticleJournal of neurology2017
A multi-source approach to determine SMA incidence and research ready population.
Article in Journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04292574 (Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland), which is not on this map. Cited by 82 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland
Who cites it
82 citing papers in PubMed, 4 syntheses or guidelines pooled it, 169 citations in OpenAlex.
- The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy patients: review of the literature and a meta-analysis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2022Pooled it
- Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management.PharmacoEconomics · 2022Pooled it
- Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.Applied health economics and health policy · 2021Pooled it
- First-in-Human Dose Selection and Safety, Tolerability, Pharmacokinetics, and Immunogenicity of the Muscle-Specific Kinase Agonist Adimanebart (ARGX-119).Journal of clinical pharmacology · 2026Trial
- Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.PloS one · 2018Trial
- A changing early onset scoliosis phenotype in spinal muscular atrophy: nusinersen treatment is associated with younger age, increased curve magnitude, and kyphosis at the time of index surgery.Spine deformity · 2026Article
- Machine learning predicts treatment response to nusinersen in non-sitter spinal muscular atrophy (SMA).Journal of neuromuscular diseases · 2026Article
- Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.Molecular genetics & genomic medicine · 2026Article
- Nationwide Epidemiology of Motor Neuron Diseases in Latvia (2020-2024): Incidence, Prevalence, and Clinical Characteristics.European journal of neurology · 2026Article
- Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study.Clinical genetics · 2026Observational
- Risdiplam treatment in adults with spinal muscular atrophy: a single-center, real-world study.BMC neurology · 2026Article
- Cost-Effectiveness and Public Health Impact of Newborn Screening for Spinal Muscular Atrophy in France.Applied health economics and health policy · 2026Article
- Understanding the experiences of adults with spinal muscular atrophy & their transition to an adult program: A mixed methods study.Journal of neuromuscular diseases · 2026Article
- Real-world treatment patterns and unmet needs in spinal muscular atrophy: a caregiver-centric survey study from China.BMC neurology · 2026Article
- A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam.Scientific reports · 2026Article
- Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand.Journal of neuromuscular diseases · 2025Article
- Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.Journal of neuromuscular diseases · 2025Article
- Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.International journal of neonatal screening · 2025Article
- A Brand-New Metal Complex Catalyst-Free Approach to the Synthesis of 2,8-Dimethylimidazo[1,2-Molecules (Basel, Switzerland) · 2025Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology. To investigate the incidence of genetically confirmed SMA, and the number of patients who are able and approachable to participate in new clinical trials and observational research, we used both genetic laboratories, the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR). In Europe, 4653 patients were genetically diagnosed by the genetic laboratories in the 5-year period 2011 to 2015, with 992 diagnosed in 2015 alone. The data provide an estimated incidence of SMA in Europe of 1 in 3900-16,000 live births. Patient numbers in the national patient registries and CTSR were considerably lower. By far, most patients registered in the national patient registries and the CTSR live in Europe and are reported to have SMA type II. Considerable differences between countries in patient participation in the registries were observed. Our findings indicate that not all patients with SMA are accessed by specialist healthcare services and these patients may not have access to research opportunities and optimal care.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.