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

Plain-language summary

This research aimed to develop a laboratory (in vitro) disease model for Kabuki Syndrome (KS) using cells taken from affected patients. By combining patient-derived mesenchymal stem cells with CRISPR/Cas9 technology, it explored an epigenome editing approach intended to restore MLL4 activity lost when the KMT2D gene does not function. Participants were people with Kabuki syndrome confirmed by molecular genetics (a proven KMT2D mutation) together with a same-sex parent; the intervention was performed on cultured cells rather than directly on patients.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University Hospital, Montpellier

Intervention

Intervention on primary cultured cells

Start date

9/28/2020

Estimated completion

11/27/2020

Countries

France

Locations

• Montpellier, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

1. For the patient = to have a Kabuki syndrome authenticated by molecular genetics (proof of mutation in the KMT2D gene)
2. For parents = having the same sex as your child
3. To be affiliated to a French social security system
4. Authorize the participation of the study

Exclusion Criteria:

1. Not be affiliated to a social security scheme (CMU is included)
2. Existence of a significant coagulation ruble (especially thrombocytopenic purpura in Kabuki patients with platelet counts \< 20,000 Units).
3. Genetic skin disease responsible for poor healing
4. Refusal to participate in the child's and/or parent's study