Evidence map›Paper›PMID 42157962›Full record

ArticleMolecular therapy. Advances2026

Development of a secretable frataxin for enhanced efficacy in treating Friedreich's Ataxia.

Daniel M DuBreuil, Michael Fleming, Yashvi Parikh, Mikaela Woo, Jie Bu, Swathi Ayloo, Ingeborg M Langohr, Dinesh S Bangari, Christian Mueller, Shyam Ramachandran

Abstract read
In one paragraph

Article in Molecular therapy. Advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

10 authors.

Daniel M DuBreuilSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.
Michael FlemingSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.
Yashvi ParikhSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.
Mikaela WooSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.
Jie BuSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.
Swathi AylooSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.
Ingeborg M LangohrSanofi Discovery Pathology, Cambridge, MA 02141, USA.
Dinesh S BangariSanofi Discovery Pathology, Cambridge, MA 02141, USA.
Christian MuellerSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.
Shyam RamachandranSanofi Genomic Medicine Unit, Waltham, MA 02451, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Friedreich's Ataxia (FA) exemplifies a critical challenge for gene therapies targeting multi-system disorders: achieving widespread therapeutic protein repletion while minimizing vector dose and systemic exposure. No disease-modifying therapies are approved for FA, and current gene therapy approaches fail to address the full disease, forcing patients to choose between cardiac protection and neurological benefit. Here, we present "Engineered Cross-Correction," in which the therapeutic protein is bioengineered for secretion, expanding the therapeutic footprint. We apply this approach to FA by engineering a secretable frataxin and delivering it via a single intra-cerebrospinal fluid (CSF) injection of an adeno-associated viral (AAV) vector equipped with a novel capsid and tissue-selective promoter. We achieved broad protein repletion across key target tissues-heart, dorsal root ganglia, and cerebellum-in mouse and non-human primate. In FA mouse models, we observed rescue of cardiac and neurological phenotypes, marking the first demonstration of dual correction with a single, minimally invasive administration. These benefits were achieved without widespread transduction, reducing vector burden and associated toxicity. Our findings establish a scalable platform that contrasts with intravenous blood-brain barrier (BBB)-penetrant gene delivery and offers a generalizable strategy for multi-system disorders. Beyond FA, this positions Engineered Cross-Correction as a new frontier for the next generation of gene therapies.

Indexed as

AAVcross-correctionFriedreich’s Ataxiagene therapyprotein engineering

Identifiers

PMID42157962
PMCPMC13182795

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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.