Evidence map›Paper›PMID 42594875›Full record

ReviewCell reports. Medicine2026

Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases.

Annemieke Aartsma-Rus, Claudio Melo de Gusmao, Scott Demarest, Willeke van Roon-Mom, Holm Graessner, Lynn Wein Bush, Charlotte Kogel, Timothy Wei-Wen Yu, Matthis Synofzik, Rebecca Schuele

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Cell reports. Medicine, 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

10 authors.

Annemieke Aartsma-RusDepartment of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands. Electronic address: a.m.rus@lumc.nl.
Claudio Melo de GusmaoClaudio Melo de Gusmao, Movement Disorders Division and Neurogenetics Program, Mass General Brigham, Harvard Medical School, Cambridge, MA, USA.
Scott DemarestUniversity of Colorado, School of Medicine, Department of Pediatrics, Division of Neurology, Precision Medicine Institute, Children's Hospital Colorado, Aurora, CO, USA.
Willeke van Roon-MomDepartment of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Holm GraessnerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Baden-Württemberg, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Baden-Württemberg, Germany.
Lynn Wein BushDivision of Genetics & Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Translational Neuroscience Center, Boston Children's Hospital, Pediatrics, Harvard Medical School, Harvard Medical School Center for Bioethics, Boston, MA, USA.
Charlotte KogelInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Baden-Württemberg, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Baden-Württemberg, Germany.
Timothy Wei-Wen YuDivision of Genetics & Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Baden-Württemberg, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Baden-Württemberg, Germany.
Rebecca SchueleDivision of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Baden-Württemberg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

With advances in genetic diagnostic tools, pathogenic variants in patients with genetic diseases are being identified at an accelerated pace. For a subset of these patients, individualized genetic interventions such as antisense oligonucleotides (ASOs) would address the disease cause. These individualized, or n-of-1, ASOs are currently being clinically applied in dozens of cases but mainly in patients with neurodegenerative diseases. For neurodevelopmental disorders, however, several questions arise: (1) Are they treatable? (2) What is the appropriate time window? (3) Does the treatment effect justify the burden and risks of treatment? In this consensus statement, we argue for the case to consider the development of individualized ASO treatment for individuals living with neurodevelopmental diseases and discuss which aspects need to be taken into consideration.

Indexed as

Neurodevelopmental DisordersOligonucleotides, AntisensePrecision MedicineGenetic TherapyHumansOligonucleotides, Antisenseantisense oligonucleotideindividualized treatmentneurodevelopmental diseasesn-of-1

Identifiers

PMID42594875
PMCPMC13589468

What OpenQuestion holds

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Registered trials

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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.