Evidence map›Paper›PMID 38504520›Full record

ArticleMolecular therapy : the journal of the American Society of Gene Therapy2024

Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.

Imran H Yusuf, Thomas Burgoyne, Ahmed Salman, Michelle E McClements, Robert E MacLaren, Peter Charbel Issa

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 46% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Review
  2. 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

6 authors at 2 institutions in 1 country.

Imran H YusufNuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Headley Way, Oxford OX3 9DU, UK.
Thomas BurgoyneUCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.
Ahmed SalmanNuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Michelle E McClementsNuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Robert E MacLarenNuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Headley Way, Oxford OX3 9DU, UK. Electronic address: enquries@ndcn.ox.ac.uk.
Peter Charbel IssaNuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Headley Way, Oxford OX3 9DU, UK. Electronic address: study-enquiry@outlook.com.
John Radcliffe Hospital · GBUniversity College London · GB

Funding

Medical Research Council MR/R000735/1Medical Research Council MR/X020827/1
6 · The paper itself

Abstract

Age-related macular degeneration (AMD) is the most common cause of untreatable blindness in the developed world. Recently, CDHR1 has been identified as the cause of a subset of AMD that has the appearance of the "dry" form, or geographic atrophy. Biallelic variants in CDHR1-a specialized protocadherin highly expressed in cone and rod photoreceptors-result in blindness from shortened photoreceptor outer segments and progressive photoreceptor cell death. Here we demonstrate long-term morphological, ultrastructural, functional, and behavioral rescue following CDHR1 gene therapy in a relevant murine model, sustained to 23-months after injection. This represents the first demonstration of rescue of a monogenic cadherinopathy in vivo. Moreover, the durability of CDHR1 gene therapy seems to be near complete-with morphological findings of the rescued retina not obviously different from wildtype throughout the lifespan of the mouse model. A follow-on clinical trial in patients with CDHR1-associated retinal degeneration is warranted. Hypomorphic CDHR1 variants may mimic advanced dry AMD. Accurate clinical classification is now critical, as their pathogenesis and treatment are distinct.

Indexed as

Cadherin Related ProteinsCadherinsDisease Models, AnimalGenetic TherapyNerve Tissue ProteinsRetinal Cone Photoreceptor CellsRetinal DegenerationRetinal Rod Photoreceptor CellsAnimalsHumansMacular DegenerationMiceCadherin Related ProteinsCadherinsCDHR1 protein, humanNerve Tissue Proteinscadherin-related family member 1CDHR1cone-rod dystrophygene supplementationgene therapymacular degenerationmacular dystrophyoptical coherence tomographyprotocadherinretinitis pigmentosa

Identifiers

PMID38504520
PMCPMC11081940
OpenAlexW4392967507

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.