Dataset Information

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study.

ABSTRACT: Objectives:Spinal muscular atrophy is a monogenic disease characterized by progressive spinal and bulbar muscle weakness and atrophy. It is caused by the degeneration of alpha-motoneurons. The recent approval of the antisense oligonucleotide nusinersen highlights the need for reliable clinical tools to evaluate motor function in patients with neuromuscular disorders. Measurement of the bulbar neuromuscular function (e.g., bite force) could be an extension to existing motor scales, sensitive to more nuanced changes, especially in symptomatic patients with severely reduced functional abilities. Materials and methods:Maximum bite force measurement was used to quantify changes of the masticatory function in adult monozygotic female twins with SMA type II. Using piezoelectric transducers, 550 observations were recorded for each patient during the first year of nusinersen therapy. Results:During the application of four loading doses of nusinersen, bite force levels steadily increased and reached a statistically significantly higher level compared to the initial state in both patients. Subsequent maintenance doses coincided with smaller or no statistically significant changes in maximum bite force. Conclusions:This pilot study indicates that the measurement of maximum bite force may be a useful tool to detect changes of the bulbar function in SMA patients. As such, it may supplement existing scales to identify treatment-related changes in motor function.

SUBMITTER: Kruse T

PROVIDER: S-EPMC7460731 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study.

Kruse Teresa T Heller Raoul R Wirth Brunhilde B Glöggler Julia J Wurster Claudia D CD Ludolph Albert C AC Braumann Bert B

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20200601 2

<h4>Objectives</h4>Spinal muscular atrophy is a monogenic disease characterized by progressive spinal and bulbar muscle weakness and atrophy. It is caused by the degeneration of alpha-motoneurons. The recent approval of the antisense oligonucleotide nusinersen highlights the need for reliable clinical tools to evaluate motor function in patients with neuromuscular disorders. Measurement of the bulbar neuromuscular function (e.g., bite force) could be an extension to existing motor scales, sensit ...[more]

PMID: 32904902

Similar Datasets

Project description:BackgroundStudies regarding the impact of (neuro)inflammation and inflammatory response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in 5q-associated spinal muscular atrophy (SMA) are sparse. Increased risk of hydrocephalus in untreated SMA patients and a marginal but significant increase of the serum/CSF albumin ratio (Qalb) with rare cases of communicating hydrocephalus during nusinersen treatment were reported, which confirms the unmet need of an inflammatory biomarker in SMA. The aim of this study was to investigate the (neuro)inflammatory marker chitotriosidase 1 (CHIT1) in SMA patients before and following the treatment with the ASO nusinersen.MethodsIn this prospective, multicenter observational study, we studied CSF CHIT1 concentrations in 58 adult and 21 pediatric patients with SMA type 1, 2 or 3 before treatment initiation in comparison to age- and sex-matched controls and investigated its dynamics during nusinersen treatment. Concurrently, motor performance and disease severity were assessed.ResultsCHIT1 concentrations were elevated in treatment-naïve SMA patients as compared to controls, but less pronounced than described for other neurodegenerative diseases such as amyotrophic lateral sclerosis. CHIT1 concentration did not correlate with disease severity and did not distinguish between clinical subtypes. CHIT1 concentration did show a significant increase during nusinersen treatment that was unrelated to the clinical response to nusinersen therapy.ConclusionsCHIT1 elevation in treatment-naïve SMA patients indicates the involvement of (neuro)inflammation in SMA. The lacking correlation of CHIT1 concentration with disease severity argues against its use as a marker of disease progression. The observed CHIT1 increase during nusinersen treatment may indicate an immune response-like, off-target reaction. Since antisense oligonucleotides are an establishing approach in the treatment of neurodegenerative diseases, this observation needs to be further evaluated.

Dataset Information

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study.

Publications

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets