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

Civil Hospices of Lyon logo

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)

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

Trial contacts and locations

1

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Central trial contact

Massimiliano ROSSI, Dr; Linda PONS, Dr

Data sourced from clinicaltrials.gov

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