Gene Editing as a Therapeutic Approach for Rett Syndrome
ConditionRett Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age6+
SponsorUniversity of Siena
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Age above 6 months;
Availability of parents or legal guardians to provide free and informed consent to participate in the study
Disqualifiers
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;
Trial population
Patients affected by Rett syndrome with one of the four hotspots mutations in MECP2 gene: p.T158M, p.R255X, p.R168X, p.R306C
Trial design
Design model
Other
Time perspective
Prospective
Treatments tested in this trial
Gene editing in vitro
Other interventionTesting of gene editing efficiency in vitro in human cellular models derived from patients
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Editing efficiency
Percentage of gene editing achieved for each mutation
Time frame
3 yearsSecondary outcomes
1
Editing specificity
Evaluation of off-targets
Time frame
3 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov