Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice
Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY
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
Participation Requirements
Sex: Female
Minimum Age: 6 months
Healthy Volunteers: f
View:
• 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
Locations
Other Locations
Italy
University of Siena
RECRUITING
Siena
Contact Information
Primary
Ilaria Meloni, BS.PhD
ilaria.meloni@dbm.unisi.it
+390577233259
Time Frame
Start Date: 2021-03-01
Estimated Completion Date: 2026-03-01
Participants
Target number of participants: 40
Related Therapeutic Areas
Sponsors
Leads: University of Siena