Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome (ELAST7)

Civil Hospices of Lyon

Status: Unknown

Conditions: Williams-Beuren Syndrome; Vasculopathy; Micro-duplication 7q11.23 Syndrome

Treatments: Biological: Physical examination and Urine and blood samples; Biological: Urine and blood samples

Study type: Interventional

Funder types: Other

Identifiers

NCT04051086

69HCL18_0368

Details and patient eligibility

About

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.

Enrollment: 90 estimated patients

Sex: All

Ages: 3 months to 60 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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90 participants in 3 patient groups

Williams Beuren

Other group

Description:

Subjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome.

Treatment:

Biological: Physical examination and Urine and blood samples

Micro-duplication 7q11.23

Other group

Description:

Subjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome.

Treatment:

Biological: Physical examination and Urine and blood samples

Healthy Group

Other group

Description:

Subjects without cardiovascular and neurological medical history.

Treatment:

Biological: Urine and blood samples