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

Vasculopathy Clinical Trial

— ELAST7  

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04051086
• Other study ID #: 69HCL18_0368
• Status: Not yet recruiting
• Phase: N/A
• Start date: October 2019
• Est. completion date: October 2021

Study information

• Verified date: August 2019
• Source: Hospices Civils de Lyon
• Contact: Massimiliano ROSSI, Dr
• Phone: 04 27 85 55 72
• Email: Massimiliano.rossi[@]chu-lyon.fr
• Is FDA regulated: No
• Study type: Interventional

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 90
• Est. completion date: October 2021
• Est. primary completion date: October 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 3 Months to 60 Years

Eligibility

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

Exclusion Criteria:

• No social insurance

• Subject under judicial protection

• Subject participating in another research including an exclusion period still in progress

Related Conditions & MeSH terms

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

Intervention

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
• Urine and blood samples
Only one visit for each participant Medical history Urine and blood samples

Locations

Country	Name	City	State
France	Hôpital Femme Mère Enfant - Hospices Civils de Lyon	Bron

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Plasma level of elastin peptides (PE)	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	1 day
Primary	Urinary level of elastin peptides (PE)	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	1 day
Secondary	Correlation between blood level of PE and cardiovascular involvement in patients.	Blood level of PE will be correlated with the presence / severity of cardiovascular disease	1 day
Secondary	Correlation between urinary level of PE and cardiovascular involvement in patients.	Urinary level of PE will be correlated with the presence / severity of cardiovascular disease	1 day
Secondary	Blood level of PE in treated and untreated minoxidil patients	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	1 day
Secondary	Urinary level of PE in treated and untreated minoxidil patients	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	1 day