Evidence map›Paper›PMID 37642150›Full record

ArticleEMBO molecular medicine2023

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.

Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner-Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel and 1 more

Open access · goldAbstract read
In one paragraph

Article in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

10 citing papers in PubMed, 18 citations in OpenAlex.

  1. Review
  2. Article
  3. IsMedComm · 2025
    Article
  4. Advancing precision ear medicine: leveraging animal models for disease insights and therapeutic innovations.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
  5. Review
  6. Article
  7. Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  8. Review
  9. Review
  10. Article
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 5 institutions in 3 countries.

Valda PauzuolyteUCL Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0009-0009-7352-7894
Aara Patel *UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
James R Wawrzynski *UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Neil J Ingham *Wolfson Centre for Age-Related Diseases, King's College London, London, UK.ORCID 0000-0002-0916-7347
Yeh Chwan LeongUCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Rajvinder KardaEGA Institute for Woman's Health, University College London, London, UK.
Maria Bitner-GlindziczUCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zürich, Zürich, Switzerland.ORCID 0000-0002-0370-3815
Simon N WaddingtonEGA Institute for Woman's Health, University College London, London, UK.ORCID 0000-0003-4970-4730
Karen P SteelWolfson Centre for Age-Related Diseases, King's College London, London, UK.
Jane C SowdenUCL Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0003-0937-2479
Great Ormond Street Hospital · GBKing's College London · GBUniversity College London · GBUniversity of the Witwatersrand · ZAUniversity of Zurich · CH

Funding

Great Ormond Street Hospital Charity (GOSH)Newlife the Charity for Disabled Children (Newlife)NIHR | NIHR Great Ormond Street Hospital Biomedical Research Centre (BRC)Royal National Institute for Deaf People (RNID) G86Sparks (Sparks Charity)
6 · The paper itself

Abstract

Deafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X-linked disorder, caused by NDP gene mutation. It manifests as blindness at birth and progressive sensorineural hearing loss, leading to debilitating dual sensory deprivation. To develop a gene therapy, we used a Norrie disease mouse model (Ndp

Indexed as

BlindnessEye ProteinsGenetic Diseases, X-LinkedGenetic TherapyHearing LossHearing Loss, SensorineuralNerve Tissue ProteinsRetinaSpasms, InfantileAnimalsCochleaDependovirusDisease Models, AnimalGenetic VectorsHumansMiceEye ProteinsNDP protein, humanNerve Tissue ProteinsAAV9 gene therapycochleaNdpretinavascular

Identifiers

PMID37642150
PMCPMC10565640
OpenAlexW4386251677

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.