Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome — ELAST7  

Vasculopathy Clinical Trial

Official title: Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome

Status Not yet recruiting

Clinical Trial 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 intellectual disability. Microdeletion includes several genes: ELN encodes for elastin and the haplo-insufficiency (only 1 functional copy) causes vasculopathy.

The primary objective is to quantify plasma and urinary levels of elastin peptides in Williams-Beuren patients and 7q11.23 micro-duplication syndrome patients in order to correlate the levels of these markers with the number of copies of ELN gene (proportional positive relationship "gene copy number - circulating levels of markers) Materials and Methods: This prospective study will be carried out in Lyon at the "Hôpital Femme-Mère-Enfant" for 2 years. 3 groups of patients will be studied: Williams-Beuren patients (N=20), micro-duplication 7q11.23 syndrome patients (N=10) and healthy patients (N=60). Subjects will be followed for 1 day.

Clinical examination (weight, height, blood pressure) and biological sample collection (blood and urine sample) will be carry out for Williams Beuren and micro-duplication 7q11.23 patients group. A large majority of visits will be part of patients' usual care. A large part of patients are systematically seen in consultation once a year. For healthy group, only biological sample collection will be carry out. The PE concentrations will be assessed and compared between the three groups of patients.

Clinical Trial Description

n/a

Related Conditions & MeSH terms

• Micro-duplication 7q11.23 Syndrome
• Syndrome
• Vascular Diseases
• Vasculopathy
• Williams Syndrome
• Williams-Beuren Syndrome

• NCT number: NCT04051086
• Study type: Interventional
• Source: Hospices Civils de Lyon
• Contact: Massimiliano ROSSI, Dr
• Phone: 04 27 85 55 72
• Email: Massimiliano.rossi@chu-lyon.fr
• Status: Not yet recruiting
• Phase: N/A
• Start date: October 2019
• Completion date: October 2021