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

Launched by UNIVERSITY HOSPITAL, MONTPELLIER · Feb 25, 2019

Keywords

ClinConnect Summary

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 the symptoms of patients with KS. Due to the lack of treatment in the KS, the aim is to develop a model of this disease from fibroblasts from patients and reprogram them into mesenchymal stem cells. This approach will generate a KS-specific stem cell bio-bank, allowing the identification of common disturbances caused by the loss of function (LoF) of KMT2D. The impact of the KMT2D LoF on transcri...

Gender

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Eligibility criteria

• 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

Trial Officials