ArticleOrphanet journal of rare diseases2021
The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy.Nature medicine · 2026Article
- Real-world evidence on nusinersen treatment of persons with SMA: a focused review.Journal of neuromuscular diseases · 2026Review
- Gene and genetic therapies in Alzheimer's disease and other dementias.The journal of prevention of Alzheimer's disease · 2025Article
- Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy.Scientific reports · 2024Article
- Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.Neurology. Genetics · 2024Article
- Clinical perspectives: Treating spinal muscular atrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Review
- Myelitis as a side effect of tofersen therapy in SOD1-associated ALS.Journal of neurology · 2024Article
- Personalized antisense oligonucleotides 'for free, for life' - the n-Lorem Foundation.Nature medicine · 2023Article
- Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report.BMC neurology · 2023Article
- Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen.Journal of neuromuscular diseases · 2023Article
- Pharmacotherapy for Spinal Muscular Atrophy in Babies and Children: A Review of Approved and Experimental Therapies.Paediatric drugs · 2022Review
- Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence.Drug design, development and therapy · 2022Review
- Nusinersen: A Review in 5q Spinal Muscular Atrophy.CNS drugs · 2021Article
- Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy.Orphanet journal of rare diseases · 2021Observational
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe incidence of hydrocephalus in the spinal muscular atrophy (SMA) population relative to the general population is currently unknown. Since the approval of nusinersen, an intrathecally administered drug for SMA, a small number of hydrocephalus cases among nusinersen users have been reported. Currently, the incidence of hydrocephalus in untreated SMA patients is not available, thereby making it difficult to determine if hydrocephalus is a side effect of nusinersen or part of SMA's natural history. This retrospective, matched cohort study used electronic health records (EHRs) to estimate and compare the incidence of hydrocephalus in both SMA patients and matched non-SMA controls in the time period prior to the approval of nusinersen.
methodsThe U.S. Optum® de-identified EHR database contains records for approximately 100 million persons. The current study period spanned January 1, 2007-December 22, 2016. Patients with SMA were identified by one or more International Classification of Diseases (ICD)-9 and/or ICD-10 codes for SMA appearing as primary, admission, or discharge diagnoses, without a pregnancy diagnostic code in the 1-year time before and after the first occurrence of SMA. The first occurrence of SMA defined the index date and non-SMA controls were matched to cases. Incident cases of hydrocephalus were identified with one or more ICD-9 and/or ICD-10 code for any type of hydrocephalus following the index date. Hydrocephalus incidence rates per person-months and the incidence rate ratio comparing SMA cases with non-SMA controls were calculated.
resultsThere were 5354 SMA cases and an equal number of matched non-SMA controls. Incident hydrocephalus events were identified in 42 SMA cases and 9 non-SMA controls. Hydrocephalus incidence rates per 100,000 person-months were 15.5 (95% CI: 11.2-20.9) among SMA cases and 3.3 (95% CI: 1.5-6.3) among non-SMA controls. The incidence rate ratio was 4.7 (95% CI: 2.4-10.2).
conclusionsBased on this retrospective analysis utilizing US EHR data, SMA patients had an approximately fourfold increased risk of hydrocephalus compared with non-SMA controls in the era preceding nusinersen treatment. This study may assist in properly evaluating adverse events in nusinersen-treated SMA patients.
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