MedTrace Logo

Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders

NCT03855631 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 8

Last updated 2020-12-01

No results posted yet for this study

Summary

Starting from isolating primary cells from affected patients, an in vitro disease model system for KS will be developed. Using alternative strategies to obtain patient-derived mesenchymal stem cells, an integrative approach will be adopted for defining both the transcriptional and epigenetic regulatory networks perturbed upon the loss of function of KMT2D. Combining the self-renewal potential of mesenchymal stem cells (MSCs) with CRISPR/Cas9 technology, an epigenome editing approach as therapeutic strategy to rescue the activity of MLL4 will be developed.

A step forward is expected towards the understanding of those the molecular mechanisms governing the aetiology of Kabuki Syndrome (KS) and that the proposed in vitro disease model will provide to the scientific community an experimental system to study the KS. Importantly, the aim is to define the molecular bases of KS and to develop a therapeutic strategy that could ameliorate some of the abnormalities associated with KS.

Conditions

  • Kabuki Syndrome 1

Interventions

GENETIC

Intervention on primary cultured cells

The intervention includes primary cultured cells, reprograming them into mesenchymal stem cells and CRISPR/Case9 gene therapy treatment on patients' cells

Sponsors & Collaborators

  • Association Française contre les Myopathies Telethon

    collaborator UNKNOWN

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Alessio Zippo, PhD · Center of Integrative Biology

Eligibility

Min Age
6 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-09-28
Primary Completion
2020-11-27
Completion
2020-11-27

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03855631 on ClinicalTrials.gov