Status:
COMPLETED
Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders
Lead Sponsor:
University Hospital, Montpellier
Collaborating Sponsors:
Association Française contre les Myopathies Telethon
Conditions:
Kabuki Syndrome 1
Eligibility:
All Genders
6+ years
Brief 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, ...
Detailed Description
Main and secondary objectives : The main objective is to study the pathological role of ML mutations in KS to facilitate the identification and characterization of therapeutic strategies to improve t...
Eligibility Criteria
Inclusion
- For the patient = to have a Kabuki syndrome authenticated by molecular genetics (proof of mutation in the KMT2D gene)
- For parents = having the same sex as your child
- To be affiliated to a French social security system
- Authorize the participation of the study
Exclusion
- Not be affiliated to a social security scheme (CMU is included)
- Existence of a significant coagulation ruble (especially thrombocytopenic purpura in Kabuki patients with platelet counts \< 20,000 Units).
- Genetic skin disease responsible for poor healing
- Refusal to participate in the child's and/or parent's study
Key Trial Info
Start Date :
September 28 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 27 2020
Estimated Enrollment :
8 Patients enrolled
Trial Details
Trial ID
NCT03855631
Start Date
September 28 2020
End Date
November 27 2020
Last Update
December 1 2020
Active Locations (1)
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1
Arnaud de villeneuve Hospital
Montpellier, Herault, France, 34295