Narrative ReviewDevelopmental medicine and child neurology2023

State-of-the-art therapies for Rett syndrome.

Nicolas Panayotis, Yann Ehinger, Marie Solenne Felix and 1 others

PMID 36056801

WHAT IT FOUND

Rett syndrome has no cure.

This review says current treatments only relieve symptoms, while gene replacement, gene editing and X-chromosome reactivation are preclinical strategies that need more work.

Key findings

01Rett syndrome is currently incurable, and available treatments aim to alleviate symptoms and improve quality of life.

02The review states its aim is to discuss strategies that allow each cell to express functional MeCP2 and potentially cure the pathology, rather than pharmacological approaches.

03The review discusses gene replacement, gene editing and X-chromosome reactivation, and states that MeCP2 dosage control and brain delivery remain problems.

STILL TO COME

How it was doneWhat they found

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What it does not show

It is a review, not an original clinical trial, so it does not report new patient outcomes. It states that pharmacological approaches were not addressed. The strategies it discusses are described as preclinical, and further refinement is needed. It does not evaluate therapist-delivered rehabilitation or speech therapy.

Declared interests

Funding was from INSERM, Aix Marseille University, grants from AFM-Téléthon, Promex Stiftung Für Die Forschung, Rettsyndrome.org and Association Française du Syndrome de Rett. The supplied text lists funders but does not provide an author competing-interests declaration.

The easy way to misread this

Do not read the gene therapy, gene editing or X-chromosome reactivation strategies as available treatments. The review says Rett syndrome is currently incurable and these approaches are preclinical or still need refinement.

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The study

Certainty of evidence
Low

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    Cite

    Nicolas Panayotis, Yann Ehinger, Marie Solenne Felix, et al. State-of-the-art therapies for Rett syndrome. Developmental medicine and child neurology. 2023.

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