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Genomic Study of Cutis Tricolor
Sponsor: University Hospital, Montpellier
Summary
It's a study on Syndromic or Isolated Cutis Tricolor and had as main goal to identify the associated gene to the disease thanks to genetic analysis on minors patients and their parents reach by cutis Tricolor or not.
Key Details
Gender
All
Age Range
4 Years - 60 Years
Study Type
INTERVENTIONAL
Enrollment
10
Start Date
2024-06-05
Completion Date
2026-12
Last Updated
2025-10-03
Healthy Volunteers
No
Conditions
Interventions
Blood sample
7.5 mL will be sampled on EDTA tube for each patient
Cutaneous biopsy
4 mm of damaged skin will be sampled after a premedication with lidocaine gel for 4 patients
High troughput sequencing of human's exome
Sequencing on Illumina NovaSeq6000 platform, using the Twist Bioscience Human Core Exome kit + IntegraGen content, average 37Mb. This sequencing will be realised by external provider, IntegraGen society.
Locations (1)
University, Montpellier
Montpellier, France