Evidence map›Paper›PMID 40808372›Full record

ReviewJournal of neuromuscular diseases2026

Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials.

J Andrew Berglund, Aaron Novack, Iva Ivanovska Holder, Soma Ray, Nicholas E Johnson

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of neuromuscular diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

J Andrew BerglundThe RNA Institute, University at Albany, SUNY, Albany, NY, USA.
Aaron NovackDyne Therapeutics, Waltham, MA, USA.
Iva Ivanovska HolderDyne Therapeutics, Waltham, MA, USA.
Soma RayDyne Therapeutics, Waltham, MA, USA.
Nicholas E JohnsonDepartment of Neurology, Virginia Commonwealth University, Richmond, VA, USA.

Funding

Identifying the RNA Splicing and Gene Expression Changes that Cause Congenital Myotonic Dystrophy (Renewal)R01NS104010 · NINDS · VIRGINIA COMMONWEALTH UNIVERSITY · PI Nicholas Elwood Johnson · 2018 to 2026
$4.4M
Trial Readiness and Endpoint Assessment in LGMDR1 (TREATing-LGMDR1)U01NS124974 · NINDS · VIRGINIA COMMONWEALTH UNIVERSITY · PI Nicholas Elwood Johnson · 2023 to 2026
$4.0M
Design, Synthesis and Efficacy of New Small Molecule Therapeutics to Impede Myotonic DystrophyR01NS120485 · NINDS · STATE UNIVERSITY OF NEW YORK AT ALBANY · PI Andrew Berglund, Masayuki Nakamori · 2022 to 2026
$2.7M
Alternative Splicing and Development of Small Molecule Therapeutics in CAG Expansion Spinocerebellar AtaxiasR01NS135254 · NINDS · STATE UNIVERSITY OF NEW YORK AT ALBANY · PI Andrew Berglund, Damian Seung-Ho Shin · 2024 to 2026
$2.0M
Development and validation of clinical outcome assessments in LGMD2AR21TR003184 · NCATS · VIRGINIA COMMONWEALTH UNIVERSITY · PI JOHNSON, NICHOLAS ELWOOD, STATLAND, JEFFREY · 2020 to 2021
$452k
Functional Role of Pseudouridine on Zika Virus Gene ExpressionR21AI178672 · NIAID · STATE UNIVERSITY OF NEW YORK AT ALBANY · PI PAGER, CARA THERESIA · 2023 to 2024
$423k
FDA HHS R01 FD006071NCATS NIH HHS R21 TR003184NCBDD CDC HHS U01 DD001242NIAID NIH HHS R21 AI178672NINDS NIH HHS R01 NS104010NINDS NIH HHS R01 NS120485NINDS NIH HHS R01 NS135254NINDS NIH HHS U01 NS124974
6 · The paper itself

Abstract

Myotonic dystrophy type 1 (DM1) is a slowly progressive, multi-systemic disorder with clinical phenotypes that vary by age of onset and severity of symptoms. It is the most common form of muscular dystrophy occurring in adults. Abnormal regulation of alternative splicing of pre-mRNA results from a repeat expansion mutation in the dystrophia myotonica protein kinase (

Indexed as

Alternative SplicingClinical Trials as TopicMyotonic DystrophyRNA SplicingBiomarkersHumansMyotonin-Protein KinaseBiomarkersMyotonin-Protein Kinasecomposite alternative splicing indexDM1surrogate biomarkertrinucleotide repeat expansion

Identifiers

PMID40808372
PMCPMC13438528

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.