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

Brief Title

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

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.
    



Study Type

Interventional


Primary Outcome

Plasma level of elastin peptides (PE)

Secondary Outcome

 Correlation between blood level of PE and cardiovascular involvement in patients.

Condition

Williams-Beuren Syndrome

Intervention

Physical examination and Urine and blood samples

Study Arms / Comparison Groups

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

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Biological

Estimated Enrollment

90

Start Date

October 2019

Completion Date

October 2021

Primary Completion Date

October 2021

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
      

Gender

All

Ages

3 Months - 60 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

, 04 27 85 55 72, [email protected]

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT04051086

Organization ID

69HCL18_0368


Responsible Party

Sponsor

Study Sponsor

Hospices Civils de Lyon


Study Sponsor

, , 


Verification Date

August 2019