Evidence map›Paper›PMID 42035260›Full record

ArticleMolecular therapy : the journal of the American Society of Gene Therapy2026

ELP1 gene augmentation restores visual function in a mouse model of familial dysautonomia.

Hui-Chen Cheng, Swanand Koli, Kate Lewis, Sara Ketchale, Yasaman Anvarinia, Morgan Erdoes, Yating Liu, Caitlin Elizabeth Keiper, Reynette Estelien, Matthew Chagnon and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy : the journal of the American Society of Gene Therapy, 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
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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

5 · Who and what money

Authors and funding

16 authors.

Hui-Chen ChengGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Swanand KoliGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Kate LewisGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Sara KetchaleGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Yasaman AnvariniaDepartment of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Morgan ErdoesGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Yating LiuCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Caitlin Elizabeth KeiperGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Reynette EstelienGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Matthew ChagnonGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Luk H VandenbergheGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Dadi GaoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Frances LefcortTikun Therapeutics, 20300 Lubar Way, Brooksville, MD, USA.
Elisabetta MoriniCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Susan A SlaugenhauptCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Anil ChekuriGrousbeck Gene Therapy Center, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. Electronic address: anil_chekuri@meei.harvard.edu.

Funding

Optic neuropathy in familial dysautonomia: determination of disease mechanisms and functional rescue.R01EY036009 · NEI · SCHEPENS EYE RESEARCH INSTITUTE · PI Anil K. Chekuri · 2025 to 2026
$1.4M
NEI NIH HHS R01 EY036009
6 · The paper itself

Abstract

Familial dysautonomia (FD) is a neurodevelopmental and neurodegenerative disorder characterized by complex neurological phenotypes. In FD patients, progressive optic neuropathy leads to severe visual impairment by the third decade of life, substantially impacting their quality of life. Although several preclinical approaches have demonstrated partial rescue of retinal ganglion cell (RGC) degeneration by increasing Elongator acetyltransferase complex subunit 1 (ELP1) expression, it has not been demonstrated that this translates into prevention of vision loss in FD, and there are currently no approved treatments. Here, we performed a comprehensive analysis of visual function in a retina-specific FD mouse model (Pax6-Cre

Indexed as

Dysautonomia, FamilialGenetic TherapyAnimalsDependovirusDisease Models, AnimalGene Therapy AgentsGenetic VectorsHumansMiceRetinaRetinal Ganglion Cellsadeno-associated viruses 2Elongator acetyltransferase complex subunit 1familial dysautonomiagene therapyoptic neuropathyretinal ganglion cells

Identifiers

PMID42035260
PMCPMC13248535

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.