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A perspective on "cure" for Rett syndrome

Research output: Contribution to journalArticle

Original languageEnglish
Article number44
Number of pages5
JournalOrphanet Journal of Rare Diseases
Volume13
Issue number1
DOIs
DateAccepted/In press - 16 Mar 2018
DatePublished (current) - 2 Apr 2018

Abstract

The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that there is potentially much to be gained from rational treatments applied to patients of any age. However, it may be difficult to strike the right balance between enthusiasm on the one hand and realism on the other. One effect of this has been a fragmentation of the "Rett syndrome community" with some groups giving priority to work aimed at a cure while fewer resources are devoted to medical or therapy-based interventions to enhance the quality of life of affected patients or provide support for their families. Several possible therapeutic approaches are under development that, it is claimed and hoped, may lead to a "cure" for patients with Rett syndrome. While all have a rationale, there are potential obstacles to each being both safe and effective. Furthermore, any strategy that succeeded in restoring normal levels of MECP2 gene expression throughout the brain carries potential pitfalls, so that it will be of crucial importance to introduce any clinical trials of such therapies with great care. Expectations of families for a radical, rational treatment should not be inflated beyond a cautious optimism. This is particularly because affected patients with us now may not be able to reap the full benefits of a "cure". Thus, interventions aimed at enhancing the quality of life of affected patients should not be forgone and their importance should not be minimised.

    Research areas

  • Cure, Expectations, Gene editing, Gene therapy, MECP2, Quality of life, Rett syndrome, Symptomatic treatment

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    Rights statement: This is the final published version of the article (version of record). It first appeared online via BMC at https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0786-6. Please refer to any applicable terms of use of the publisher.

    Final published version, 339 KB, PDF-document

    Licence: CC BY

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