Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
ELAST7
1 other identifier
interventional
90
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for not_applicable
Started Oct 2019
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 7, 2019
CompletedFirst Posted
Study publicly available on registry
August 9, 2019
CompletedStudy Start
First participant enrolled
October 1, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 1, 2021
CompletedStudy Completion
Last participant's last visit for all outcomes
October 1, 2021
CompletedAugust 12, 2019
August 1, 2019
2 years
August 7, 2019
August 8, 2019
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
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
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 Outcomes (4)
Correlation between blood level of PE and cardiovascular involvement in patients.
1 day
Correlation between urinary level of PE and cardiovascular involvement in patients.
1 day
Blood level of PE in treated and untreated minoxidil patients
1 day
Urinary level of PE in treated and untreated minoxidil patients
1 day
Study Arms (3)
Williams Beuren
OTHERSubjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome.
Micro-duplication 7q11.23
OTHERSubjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome.
Healthy Group
OTHERSubjects without cardiovascular and neurological medical history.
Interventions
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
Only one visit for each participant * Medical history * Urine and blood samples
Eligibility Criteria
You may qualify if:
- 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
You may not qualify if:
- No social insurance
- Subject under judicial protection
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Hôpital Femme Mère Enfant - Hospices Civils de Lyon
Bron, 69677, France
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Purpose
- OTHER
- Intervention Model
- PARALLEL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 7, 2019
First Posted
August 9, 2019
Study Start
October 1, 2019
Primary Completion
October 1, 2021
Study Completion
October 1, 2021
Last Updated
August 12, 2019
Record last verified: 2019-08
Data Sharing
- IPD Sharing
- Will not share