Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
NCT ID: NCT04051086
Last Updated: 2019-08-12
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
NA
90 participants
INTERVENTIONAL
2019-10-31
2021-10-31
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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NON_RANDOMIZED
PARALLEL
OTHER
NONE
Study Groups
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Williams Beuren
Subjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome.
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
Micro-duplication 7q11.23
Subjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome.
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
Healthy Group
Subjects without cardiovascular and neurological medical history.
Urine and blood samples
Only one visit for each participant
* Medical history
* Urine and blood samples
Interventions
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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
Eligibility Criteria
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Inclusion Criteria
* 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
* Subject under judicial protection
* Subject participating in another research including an exclusion period still in progress
3 Months
60 Years
ALL
Yes
Sponsors
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Hospices Civils de Lyon
OTHER
Responsible Party
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Locations
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Hôpital Femme Mère Enfant - Hospices Civils de Lyon
Bron, , France
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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69HCL18_0368
Identifier Type: -
Identifier Source: org_study_id
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