Evidence map›Paper›PMID 41795090›Full record

ReviewJournal of neurodevelopmental disorders2026

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.

Matthew C Judson, Luis Pereira de Almeida, Rebecca D Burdine, Stormy J Chamberlain, Benjamin E Deverman, Ben Distel, Michael D Ehlers, Elizabeth Jalazo, Steven A Kushner, Mark Nespeca and 6 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of neurodevelopmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Matthew C JudsonNeuroscience Center, Department of Cell Biology & Physiology, Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA.
Luis Pereira de AlmeidaCenter for Neuroscience and Cell Biology (CNC-UC), Center for Innovative Biomedicine and Biotechnology (CIBB), Gene Therapy Center of Excellence (GeneT), Faculty of Pharmacy (FFUC), University of Coimbra, Coimbra, Portugal.
Rebecca D BurdineDepartment of Molecular Biology, Princeton University, Princeton, NJ, USA.
Stormy J ChamberlainRoche Pharma Research and Early Development, Neuroscience and Rare Disease discovery and translational area, Roche Innovation Center Basel, Basel, 4070, Switzerland.
Benjamin E DevermanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Ben DistelDepartment of Clinical Genetics, Erasmus Medical Center, Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE), Rotterdam, The Netherlands.
Michael D EhlersMPM BioImpact, Boston, MA, USA.
Elizabeth JalazoDepartment of Pediatrics, Division of Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA.
Steven A KushnerDepartment of Psychiatry, SNF Center for Precision Psychiatry & Mental Health, Columbia University Irving Medical Center, Columbia University, New York, NY, 10032, USA.
Mark NespecaDepartments of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital San Diego, San Diego, CA, USA.
Stephan J SandersInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.
Martin ScheffnerDepartment of Biology, University of Konstanz, Konstanz, Germany.
Jason J YiDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, USA.
Mark J ZylkaNeuroscience Center, Department of Cell Biology & Physiology, Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA.
Ype ElgersmaDepartment of Clinical Genetics, Erasmus Medical Center, Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE), Rotterdam, The Netherlands. y.elgersma@erasmusmc.nl.
Benjamin D PhilpotNeuroscience Center, Department of Cell Biology & Physiology, Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA. bphilpot@med.unc.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.

Indexed as

Angelman SyndromeGenetic TherapyAnimalsHumans

Identifiers

PMID41795090
PMCPMC13001298

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.