ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2015
Spinal Muscular Atrophy Therapeutics: Where do we Stand?
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 52 citations in OpenAlex.
- Neuromuscular Mechanisms and Oxidative Stress in Skeletal Muscle Atrophy: Emerging Stem Cell and Gene-Based Therapeutic Strategies.Muscles (Basel, Switzerland) · 2026Review
- Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in SmnScientific reports · 2025Article
- Small Activating RNAs: Towards the Development of New Therapeutic Agents and Clinical Treatments.Cells · 2021Review
- In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.Brain sciences · 2021Review
- From Junk to Function: LncRNAs in CNS Health and Disease.Frontiers in molecular neuroscience · 2021Review
- The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States.Orphanet journal of rare diseases · 2020Review
- Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation.Journal of assisted reproduction and genetics · 2020Article
- Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort.Journal of neuromuscular diseases · 2020Article
- Genetic approaches to the treatment of inherited neuromuscular diseases.Human molecular genetics · 2019Review
- Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems.Scientific reports · 2019Article
- The Alteration of Intrinsic Excitability and Synaptic Transmission in Lumbar Spinal Motor Neurons and Interneurons of Severe Spinal Muscular Atrophy Mice.Frontiers in cellular neuroscience · 2019Article
- Development and Clinical Translation of Approved Gene Therapy Products for Genetic Disorders.Frontiers in genetics · 2019Review
- A Semi-Mechanistic Population Pharmacokinetic Model of Nusinersen: An Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy.CPT: pharmacometrics & systems pharmacology · 2018Article
- Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes.Nature communications · 2018Article
- Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy.Scientific reports · 2017Article
- Nusinersen: The First Option Beyond Supportive Care for Spinal Muscular Atrophy.Clinical drug investigation · 2017Review
- Therapeutic strategies for spinal muscular atrophy: SMN and beyond.Disease models & mechanisms · 2017Review
- Discovery of a Small Molecule Probe That Post-Translationally Stabilizes the Survival Motor Neuron Protein for the Treatment of Spinal Muscular Atrophy.Journal of medicinal chemistry · 2017Article
- Article
- Combining Engineered Nucleases with Adeno-associated Viral Vectors for Therapeutic Gene Editing.Advances in experimental medicine and biology · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder pathologically characterized by the degeneration of motor neurons in the spinal cord and muscle atrophy. Motor neuron loss often results in severe muscle weakness causing affected infants to die before reaching 2 years of age. Patients with milder forms of SMA exhibit slowly progressive muscle weakness over many years. SMA is caused by the loss of SMN1 and the retention of at least 1 copy of a highly homologous SMN2. An alternative splicing event in the pre-mRNA arising from SMN2 results in the production of low levels of functional SMN protein. To date, there are no effective treatments available to treat patients with SMA. However, over the last 2 decades, the development of SMA mouse models and the identification of therapeutic targets have resulted in a promising drug pipeline for SMA. Here, we highlight some of the therapeutic strategies that have been developed to activate SMN2 expression, modulate splicing of the SMN2 pre-mRNA, or replace SMN1 by gene therapy. After 2 decades of translational research, we now stand within reach of a treatment for SMA.
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.