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

August 8, 2019 updated by: Hospices Civils de Lyon

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

90

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Bron, France, 69677
        • Hôpital Femme Mére Enfant - Hospices Civils de Lyon

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 56 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Williams Beuren
Subjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome.
Biological: 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
Other: Micro-duplication 7q11.23
Subjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome.
Biological: 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
Other: Healthy Group
Subjects without cardiovascular and neurological medical history.
Biological: Urine and blood samples

Only one visit for each participant

  • Medical history
  • Urine and blood samples

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Plasma level of elastin peptides (PE)
Time Frame: 1 day

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)
Time Frame: 1 day

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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
Correlation between blood level of PE and cardiovascular involvement in patients.
Time Frame: 1 day
Blood level of PE will be correlated with the presence / severity of cardiovascular disease
1 day
Correlation between urinary level of PE and cardiovascular involvement in patients.
Time Frame: 1 day
Urinary level of PE will be correlated with the presence / severity of cardiovascular disease
1 day
Blood level of PE in treated and untreated minoxidil patients
Time Frame: 1 day
Blood levels of PE in the samples of patients who participated in the minoxidil clinical trial will be compare to those of participants of this study
1 day
Urinary level of PE in treated and untreated minoxidil patients
Time Frame: 1 day
Urinary levels of PE in the samples of patients who participated in the minoxidil clinical trial will be compare to those of participants of this study
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospices Civils de Lyon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

October 1, 2019

Primary Completion (Anticipated)

October 1, 2021

Study Completion (Anticipated)

October 1, 2021

Study Registration Dates

First Submitted

August 7, 2019

First Submitted That Met QC Criteria

August 8, 2019

First Posted (Actual)

August 9, 2019

Study Record Updates

Last Update Posted (Actual)

August 12, 2019

Last Update Submitted That Met QC Criteria

August 8, 2019

Last Verified

August 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 69HCL18_0368

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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