Status:
UNKNOWN
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Lead Sponsor:
Hospices Civils de Lyon
Conditions:
Williams-Beuren Syndrome
Micro-duplication 7q11.23 Syndrome
Eligibility:
All Genders
3-60 years
Phase:
NA
Brief Summary
Introduction: Williams-Beuren syndrome is a rare genetic disorder caused by a 7q11.23 microdeletion. The phenotype associates vasculopathy (arterial stenosis, hypertension), dimorphism and intellectua...
Eligibility Criteria
Inclusion
- Age : from 3 months to 60 years old
- Williams Beuren group : Diagnosis confirmed with FISH
- Micro-duplication 7q11.23 group : Diagnosis confirmed with CGHarray
- Healthy Group : no cardiovascular and neurological medical history
- Informed consent
Exclusion
- No social insurance
- Subject under judicial protection
- Subject participating in another research including an exclusion period still in progress
Key Trial Info
Start Date :
October 1 2019
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
October 1 2021
Estimated Enrollment :
90 Patients enrolled
Trial Details
Trial ID
NCT04051086
Start Date
October 1 2019
End Date
October 1 2021
Last Update
August 12 2019
Active Locations (1)
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1
Hôpital Femme Mère Enfant - Hospices Civils de Lyon
Bron, France, 69677