Spinal muscular atrophy (SMA) is one of the leading causes of death in infants related to the degeneration of neurons. Currently, there are no curative treatment options for SMA, and many options available may not be feasible. This review presents the background, clinical studies, and indications for the use of Risdiplam in treating SMA. SMA causes a decrease in the production of survival motor neuron proteins (SMN) and current treatments target to increase the expression of SMN. Risdiplam is the first and only oral medication to be approved to treat SMA. As an SMN2 splicing modifier, it has provided stronger systemic therapies than previous intrathecal and gene replacement therapies. There have been many efforts to treat SMA with multidisciplinary approaches. These include intrathecal injections to gene replacement therapies. However, these have been faced with limitations such as reaching a good therapeutic dose in systemic tissues, route of administration, and price. Risdiplam is currently the only orally administered drug approved by the FDA for the treatment of SMA. It not only provides a good therapeutic window to systemic tissues but allows for a non-invasive approach in infants. Further investigation and comparison on the safety profile of Risdiplam due to its broader systemic effect should be considered with other available therapies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567805 | PMC |
| http://dx.doi.org/10.52965/001c.25579 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Biomarkers.
Alzheimers Dement
December 2024
National Institute of Neurological Disorders and Stroke, Rockville, MD, USA.
Background: Access to biospecimens is an oft cited challenge to the progress in research on neurological disorders. Access to clinical biospecimens for development of validated biomarkers and improved cellular models of Alzheimer's Disease and Alzheimer's Disease Related Dementias (AD/ADRD) are cited as priorities across several NIH AD/ADRD Research Implementation Milestones (https://www.nia.
View Article and Find Full Text PDFCalculation of the Minimal Clinically Important Difference in Upper and Lower Limb Motor Assessment in Spinal Muscular Atrophy.
Prog Rehabil Med
January 2025
Department of Rehabilitation Medicine, The Jikei University School of Medicine, Tokyo, Japan.
Objectives: Physical function assessments in patients with spinal muscular atrophy (SMA) are important indicators for assessing the effectiveness of treatment and changes over time in rehabilitation therapy. However, few reports exist on this indicator. This study calculated the minimal clinically important difference (MCID) for assessing motor function in the upper and lower limbs of individuals with SMA to estimate the degree of change within a functional score that is considered clinically meaningful.
View Article and Find Full Text PDFA high-fidelity CRISPR-Cas13 system improves abnormalities associated with C9ORF72-linked ALS/FTD.
Nat Commun
January 2025
Department of Bioengineering, The Grainger College of Engineering, University of Illinois Urbana-Champaign, Urbana, IL, USA.
An abnormal expansion of a GGGGCC (GC) hexanucleotide repeat in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two debilitating neurodegenerative disorders driven in part by gain-of-function mechanisms involving transcribed forms of the repeat expansion. By utilizing a Cas13 variant with reduced collateral effects, we develop here a high-fidelity RNA-targeting CRISPR-based system for C9ORF72-linked ALS/FTD. When delivered to the brain of a transgenic rodent model, this Cas13-based platform curbed the expression of the GC repeat-containing RNA without affecting normal C9ORF72 levels, which in turn decreased the formation of RNA foci, reduced the production of a dipeptide repeat protein, and reversed transcriptional deficits.
View Article and Find Full Text PDFSpinal cord gray matter atrophy is associated with disability in spinal muscular atrophy.
J Neurol
January 2025
Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland.
Background: With the approval of disease-modifying treatments for 5q-spinal muscular atrophy (SMA), there is an increasing need for biomarkers for disease course and therapeutic response monitoring. Radially sampled Averaged Magnetization Inversion Recovery Acquisitions (rAMIRA) MR-imaging enables spinal cord (SC) gray matter (GM) delineation and quantification in vivo. This study aims to assess SC GM atrophy in patients with 5q-SMA and its associations with clinical disability.
View Article and Find Full Text PDFHigh-frequency epidural electrical stimulation reduces spasticity and facilitates walking recovery in patients with spinal cord injury.
Sci Transl Med
January 2025
Modular Implantable Neuroprostheses (MINE) Laboratory, Università Vita-Salute San Raffaele & Scuola Superiore Sant'Anna, 20132 Milan, Italy.
Spinal cord injury (SCI) causes severe motor and sensory deficits, and there are currently no approved treatments for recovery. Nearly 70% of patients with SCI experience pathological muscle cocontraction and spasticity, accompanied by clinical signs such as patellar hyperreflexia and ankle clonus. The integration of epidural electrical stimulation (EES) of the spinal cord with rehabilitation has substantial potential to improve recovery of motor functions; however, abnormal muscle cocontraction and spasticity may limit the benefit of these interventions and hinder the effectiveness of EES in promoting functional movements.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!