NCT04051086

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

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 90 (estimated)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 3 Months – 60 Years
• Healthy volunteers: Accepted

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.

Conditions

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

Interventions

Type	Name	Description
BIOLOGICAL	Physical examination and Urine and blood samples	Only one visit for each participant : A large majority of visits will be part of patients' usual care * Medical examination : birth, weight, gender, blood pressure, medical history * Urine and blood samples
BIOLOGICAL	Urine and blood samples	Only one visit for each participant * Medical history * Urine and blood samples

Timeline

• Start date: 2019-10-01
• Primary completion: 2021-10-01
• Completion: 2021-10-01
• First posted: 2019-08-09
• Last updated: 2019-08-12

Locations

1 site across 1 country: France