Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome (ELAST7)
Primary Purpose
Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome, Vasculopathy
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Physical examination and Urine and blood samples
Urine and blood samples
Sponsored by
About this trial
This is an interventional other trial for Williams-Beuren Syndrome focused on measuring Williams-Beuren Syndrome, Micro-duplication 7q11.23 syndrome, Vasculopathy
Eligibility Criteria
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
Sites / Locations
- Hôpital Femme Mère Enfant - Hospices Civils de Lyon
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm Type
Other
Other
Other
Arm Label
Williams Beuren
Micro-duplication 7q11.23
Healthy Group
Arm Description
Subjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome.
Subjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome.
Subjects without cardiovascular and neurological medical history.
Outcomes
Primary Outcome Measures
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
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
Secondary Outcome Measures
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
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
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
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
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT04051086
Brief Title
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Acronym
ELAST7
Official Title
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Study Type
Interventional
2. Study Status
Record Verification Date
August 2019
Overall Recruitment Status
Unknown status
Study Start Date
October 2019 (Anticipated)
Primary Completion Date
October 2021 (Anticipated)
Study Completion Date
October 2021 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Hospices Civils de Lyon
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome, Vasculopathy
Keywords
Williams-Beuren Syndrome, Micro-duplication 7q11.23 syndrome, Vasculopathy
7. Study Design
Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
90 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Williams Beuren
Arm Type
Other
Arm Description
Subjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome.
Arm Title
Micro-duplication 7q11.23
Arm Type
Other
Arm Description
Subjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome.
Arm Title
Healthy Group
Arm Type
Other
Arm Description
Subjects without cardiovascular and neurological medical history.
Intervention Type
Biological
Intervention Name(s)
Physical examination and Urine and blood samples
Intervention Description
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
Intervention Type
Biological
Intervention Name(s)
Urine and blood samples
Intervention Description
Only one visit for each participant
Medical history
Urine and blood samples
Primary Outcome Measure Information:
Title
Plasma level of elastin peptides (PE)
Description
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
Time Frame
1 day
Title
Urinary level of elastin peptides (PE)
Description
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
Time Frame
1 day
Secondary Outcome Measure Information:
Title
Correlation between blood level of PE and cardiovascular involvement in patients.
Description
Blood level of PE will be correlated with the presence / severity of cardiovascular disease
Time Frame
1 day
Title
Correlation between urinary level of PE and cardiovascular involvement in patients.
Description
Urinary level of PE will be correlated with the presence / severity of cardiovascular disease
Time Frame
1 day
Title
Blood level of PE in treated and untreated minoxidil patients
Description
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
Time Frame
1 day
Title
Urinary level of PE in treated and untreated minoxidil patients
Description
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
Time Frame
1 day
10. Eligibility
Sex
All
Minimum Age & Unit of Time
3 Months
Maximum Age & Unit of Time
60 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Massimiliano ROSSI, Dr
Phone
04 27 85 55 72
Ext
+33
Email
Massimiliano.rossi@chu-lyon.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Linda PONS, Dr
Phone
04.27.85.51.43
Ext
+33
Email
linda.pons@chu-lyon.fr
Facility Information:
Facility Name
Hôpital Femme Mère Enfant - Hospices Civils de Lyon
City
Bron
ZIP/Postal Code
69677
Country
France
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Massimiliano ROSSI, Dr
Phone
04 27 85 55 72
Ext
+33
Email
Massimiliano.rossi@chu-lyon.fr
First Name & Middle Initial & Last Name & Degree
Linda PONS, Dr
Phone
04.27.85.51.43
Ext
+33
Email
linda.pons@chu-lyon.fr
First Name & Middle Initial & Last Name & Degree
Massimiliano ROSSI, Dr
First Name & Middle Initial & Last Name & Degree
Patrick EDERY, Pr
First Name & Middle Initial & Last Name & Degree
Damien SANLAVILLE, Pr
First Name & Middle Initial & Last Name & Degree
Aurélia BERTHOLET-THOMAS, Dr
First Name & Middle Initial & Last Name & Degree
Aurélie PORTEFAIX, Dr
First Name & Middle Initial & Last Name & Degree
Lionel BOUVET, Dr
12. IPD Sharing Statement
Plan to Share IPD
No
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Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
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