Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders
The study represents a pioneering approach to gene therapy for Kabuki Syndrome (KS), a rare genetic disorder. By leveraging CRISPR/Cas9 technology for epigenome editing, the research aims to restore the function of the KMT2D gene, which is critical for normal development. The successful establishment of a patient-derived mesenchymal stem cell bio-bank could facilitate further research and potential therapeutic developments. Given the lack of existing treatments for KS, this asset may attract significant interest from biopharmaceutical companies focused on rare diseases and gene therapies. The competitive landscape includes other gene editing technologies and therapies targeting genetic disorders, necessitating a thorough diligence process to assess market entry and partnership opportunities.
Indication: Kabuki Syndrome 1
Modality: gene therapy
Target: KMT2D gene mutations and their epigenetic regulatory networks in Kabuki Syndrome.
Sponsor: University Hospital, Montpellier
Source URL: ClinicalTrials.gov
Source updated: Detailed source ingestion pending
Ingested: Jun 25, 2026
Model: trialsignal-ai-v1
Validation: validated
Matched by target_normalized: KMT2D gene mutations and their epigenetic regulatory networks in Kabuki Syndrome.
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Condition raw: Kabuki Syndrome 1
Condition normalized: Kabuki Syndrome 1
Modality raw: gene therapy
Modality normalized: gene therapy
Target raw: KMT2D gene mutations and their epigenetic regulatory networks in Kabuki Syndrome.
Target normalized: KMT2D gene mutations and their epigenetic regulatory networks in Kabuki Syndrome.