Evidence map›Paper›PMID 40171489›Full record

ArticleiScience2025

Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies.

Cardillia-Joe Simon, Hanen Khabou, Antoine Chaffiol, Marco Rucli, Marion Finzi, Nat Norberg, Anaïs Grimaud, Brix Mücher, Mélissa Desrosiers, Serge Sancho and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2025. 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

19 authors.

Cardillia-Joe SimonSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Hanen KhabouGamut Therapeutics, 4 rue Thénard, 75005 Paris, France.
Antoine ChaffiolSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Marco RucliSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Marion FinziSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Nat NorbergCHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, 75012 Paris, France.
Anaïs GrimaudCHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, 75012 Paris, France.
Brix MücherDepartment of Zoology and Neurobiology, Ruhr University Bochum, 44780 Bochum, Germany.
Mélissa DesrosiersSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Serge SanchoCHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, 75012 Paris, France.
Vera Lucia BonilhaCole Eye Institute/Ophthalmic Research, Cleveland Clinic, Cleveland, OH, USA.
Kate GrieveCHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, 75012 Paris, France.
Jens DuebelSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Michel PaquesCHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, 75012 Paris, France.
Serge PicaudSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
José Alain SahelSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Isabelle AudoSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
Stefan HerlitzeDepartment of Zoology and Neurobiology, Ruhr University Bochum, 44780 Bochum, Germany.
Deniz DalkaraSorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.

Funding

RPE, aging and age-related macular degeneration: the role of oxidative stressR01EY027750 · NEI · CLEVELAND CLINIC LERNER COM-CWRU · PI BONILHA, VERA L · 2017 to 2021
$2.0M
NEI NIH HHS R01 EY027750
6 · The paper itself

Abstract

Rod-cone dystrophy (RCD) comprises genetic conditions where rod photoreceptor degeneration leads to cone loss, causing progressive vision loss. We investigated the phototransduction cascade in degenerating cones using two RCD mouse models and found that opsin and arrestin expression continues in the cell body during outer segment degeneration. Based on this observation, we explored reactivating cones through G-protein-coupled inwardly rectifying K (GIRK) channel expression. Using adeno-associated viral delivery of GIRK channels, we achieved improved visual function in both mouse models. Additionally, we examined human tissue from late-stage RCD patients and confirmed the presence of cone opsin and cone arrestin expression, supporting the potential therapeutic application of this approach. This GIRK-channel-based strategy offers a promising method to preserve high-quality vision in RCD patients, regardless of their specific genetic mutation.

Indexed as

Cell biologyGeneticsSensory neuroscience

Identifiers

PMID40171489
PMCPMC11960651

What OpenQuestion holds

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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.