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

Not Applicable

• Conditions: Micro-duplication 7q11.23 Syndrome; Williams-Beuren Syndrome; Vasculopathy
• Interventions: Biological: Physical examination and Urine and blood samples; Biological: Urine and blood samples

• Registration Number: NCT04051086
• Lead Sponsor: Hospices Civils de Lyon

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 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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2019-08
• Study First Submitted: 2019-08-07
• Study First Submitted QC: 2019-08-08
• Last Update Submitted: 2019-08-08
• Study First Posted: 2019-08-09
• Last Update Posted: 2019-08-12
• Study Start: 2019-10
• Primary Completion: 2021-10
• Study Completion: 2021-10

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 90

Inclusion Criteria

• 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

Read More

Exclusion Criteria

• No social insurance
• Subject under judicial protection
• Subject participating in another research including an exclusion period still in progress

Read More

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Williams Beuren	Physical examination and Urine and blood samples	Subjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome.
Healthy Group	Urine and blood samples	Subjects without cardiovascular and neurological medical history.
Micro-duplication 7q11.23	Physical examination and Urine and blood samples	Subjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome.

Primary Outcome Measures

Name	Time	Method
Plasma level of elastin peptides (PE)	1 day	To quantify plasma level of elastin peptides in participants 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).; The primary endpoint will be assessed by measuring the blood level of PE between groups
Urinary level of elastin peptides (PE)	1 day	To quantify urinary level of elastin peptides in participants 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).; The primary endpoint will be assessed by measuring the urinary level of PE between groups

Secondary Outcome Measures

Name	Time	Method
Correlation between blood level of PE and cardiovascular involvement in patients.	1 day	Blood level of PE will be correlated with the presence / severity of cardiovascular disease
Blood level of PE in treated and untreated minoxidil patients	1 day	Blood levels of PE in the samples of patients who participated in the minoxidil clinical trial will be compare to those of participants of this study
Correlation between urinary level of PE and cardiovascular involvement in patients.	1 day	Urinary level of PE will be correlated with the presence / severity of cardiovascular disease
Urinary level of PE in treated and untreated minoxidil patients	1 day	Urinary levels of PE in the samples of patients who participated in the minoxidil clinical trial will be compare to those of participants of this study

Trial Locations

Locations (1)

Hôpital Femme Mère Enfant - Hospices Civils de Lyon; 🇫🇷 Bron, France