Evidence map›Paper›PMID 40055046›Full record

ArticleNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2025

A dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.

Melina Christou, Irene Sargiannidou, Revekka Papacharalambous, Jan Richter, Christina Tryfonos, Christina Christodoulou, Alexia Kagiava, Kleopas A Kleopa

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. 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

8 authors.

Melina ChristouNeuroscience Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus.
Irene SargiannidouNeuroscience Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus.
Revekka PapacharalambousNeuroscience Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus; Centre for Neuromuscular Disorders and Neuropathology Lab, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus.
Jan RichterMolecular Virology Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus.
Christina TryfonosMolecular Virology Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus.
Christina ChristodoulouMolecular Virology Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus.
Alexia KagiavaNeuroscience Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus. Electronic address: alexiak@cing.ac.cy.
Kleopas A KleopaNeuroscience Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus; Centre for Neuromuscular Disorders and Neuropathology Lab, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371, Nicosia, Cyprus.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked Charcot-Marie-Tooth disease (CMT1X) is an inherited demyelinating neuropathy caused by loss-of-function mutations in the GJB1 gene, encoding the gap junction protein connexin32 (Cx32). Cx32 plays a critical role in Schwann cell function and myelin formation in the peripheral nervous system. We have developed a gene replacement therapeutic approach using a humanized AAVrh10 vector construct expressing GJB1 under the control of the Schwann cell-specific human myelin protein zero (MPZ) promoter. Lumbar intrathecal injection of increasing AAVrh10-hMPZ.GJB1 doses (low: 1 ​× ​10

Indexed as

Charcot-Marie-Tooth DiseaseGenetic TherapySchwann CellsAnimalsConnexinsDependovirusGap Junction beta-1 ProteinGenetic VectorsHumansInjections, SpinalMaleMiceMice, Inbred C57BLConnexinsGap Junction beta-1 ProteinAAVrh10CMT1XConnexin32Gene replacementIntrathecal deliverySchwann cell

Identifiers

PMID40055046
PMCPMC12047477

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.