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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2022

Open Access 01-12-2022 | Rett Syndrome | Review

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Authors: Helen Leonard, Wendy Gold, Rodney Samaco, Mustafa Sahin, Timothy Benke, Jenny Downs

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

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Abstract

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. Despite this, few viable therapeutic options have emerged from this investment of effort. Reasons for this lack of success as they relate both to preclinical research and the clinical trial landscape are discussed. Considering what needs to be done to promote further success in the field, we take a positive and constructive approach and introduce the concept of clinical trial readiness and its necessary ingredients for Rett syndrome. These include: listening to the needs of families; support from advocacy groups; optimising use of existing clinic infrastructures and available natural history data; and, finally, the validation of existing outcome measures and/or the development and validation of new measures. We conclude by reiterating the need for a collaborative and coordinated approach amongst the many different stakeholder groups and the need to engage in new types of trial design which could be much more efficient, less costly and much less burdensome on families.
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Metadata
Title
Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome
Authors
Helen Leonard
Wendy Gold
Rodney Samaco
Mustafa Sahin
Timothy Benke
Jenny Downs
Publication date
01-12-2022
Publisher
BioMed Central
Keyword
Rett Syndrome
Published in
Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-022-02240-w

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