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โ† Trials
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Gene Editing as a Therapeutic Approach for Rett Syndrome

Recruitingn/aAges 6 Months - anyFemaleUniversity of Siena
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In plain words

What the trial is, and whether it could suit you

We designed the project to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Patients -exclusively female- since the pathology is linked to the X chromosome, with a clinical diagnosis of Rett syndrome confirmed at the genetic level by the identification, through NGS analysis, for one of the recurrent mutations (mutational hotspots) in the MECP2 gene object of the study: c. 473C\>T - (p.(T158M)), c.502C\>T (p(R168X)), c.763C\>T (p.(R255X)), c.916C\>T (p.(R306C)); * Age above 6 months; * Availability of parents or legal guardians to provide free and informed consent to participate in the study Exclusion Criteria: * NGS diagnosis with the normal outcome; * Positive NGS diagnosis for mutation in MECP2 but with the presence of a mutation different from those under study. * Unwillingness of parents or legal guardians to provide free and informed consent to participate in the study;
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What it tests

  • Gene editing in vitro
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Where

1 site
University of Siena
Siena, Italy
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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