Clinical trial NCT04051086: Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Official title: Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Williams-Beuren Syndrome
Micro-duplication 7q11.23 Syndrome
Vasculopathy
Keywords: Williams-Beuren Syndrome
Micro-duplication 7q11.23 syndrome
Vasculopathy
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2019-08-09
Enrollment: 90
Sex: ALL
Minimum age (years): 3
Maximum age (years): 60
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

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.


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

Primary outcomes:
measure: Plasma level of elastin peptides (PE)
timeFrame: 1 day
measure: Urinary level of elastin peptides (PE)
timeFrame: 1 day
Secondary outcomes:
measure: Correlation between blood level of PE and cardiovascular involvement in patients.
timeFrame: 1 day
measure: Correlation between urinary level of PE and cardiovascular involvement in patients.
timeFrame: 1 day
measure: Blood level of PE in treated and untreated minoxidil patients
timeFrame: 1 day
measure: Urinary level of PE in treated and untreated minoxidil patients
timeFrame: 1 day
Other outcomes:
Locations:
city: Bron
country: France
facility: Hôpital Femme Mère Enfant - Hospices Civils de Lyon
Study officials:
References: