Evidence map›Paper›PMID 38607040›Full record

ArticleCells2024

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare

Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, Dyah W Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P M Cremers, Carel B Hoyng, Alejandro Garanto and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 23% of its field
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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. 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

11 authors at 1 institution in 2 countries.

Nuria Suárez-HerreraDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-3761-7325
Catherina H Z LiDepartment of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Nico LeijstenDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Dyah W KarjosukarsoDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-0881-9905
Zelia CorradiDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-2934-497X
Femke BukkemsDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Lonneke DuijkersDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Carel B HoyngDepartment of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-1358-5963
Alejandro GarantoDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-5721-1560
Rob W J CollinDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-4347-6503
Radboud University Nijmegen · NL

Funding

Foundation Fighting Blindness PPA-0517-0717-RADFoundation Fighting Blindness TA-GT-0521-0799-RAD-TRAP
6 · The paper itself

Abstract

Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this reason, the development of N-of-1 strategies is explored to accelerate customized therapy design for rare cases. A strong candidate for this approach is Stargardt disease (STGD1), an autosomal recessive macular degeneration characterized by high genetic and phenotypic heterogeneity. STGD1 is caused by pathogenic variants in

Indexed as

ATP-Binding Cassette TransportersOligonucleotides, AntisenseChildFemaleHEK293 CellsHumansIntronsStargardt DiseaseABCA4 protein, humanATP-Binding Cassette TransportersOligonucleotides, AntisenseABCA4antisense oligonucleotideN-of-1pseudoexonRNA therapysplicing modulationStargardt disease

Identifiers

PMID38607040
PMCPMC11011354
OpenAlexW4393353302

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.