Williams-Beuren SyndromeELAST7NCT04051086
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
A study testing Physical examination and Urine and blood samples and Urine and blood samples in people with Williams-Beuren Syndrome and Micro-duplication 7q11.23 Syndrome, run by Hospices Civils de Lyon at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 months to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome, Vasculopathy
- What is being tested?
- Physical examination and Urine and blood samples and Urine and blood samples
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 90 participants
- Where
- 1 siteFrance
- Study dates
- Oct 2019to Oct 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months to 60 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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
Who cannot join
- No social insurance
- Subject under judicial protection
- Subject participating in another research including an exclusion period still in progress
Trial locations and contacts
1 site in 1 country.
France1 site
Hôpital Femme Mère Enfant - Hospices Civils de Lyon
Bron, 69677
Massimiliano ROSSI, Dr, 04 27 85 55 72 ext. +33, Massimiliano.rossi@chu-lyon.fr
Linda PONS, Dr, 04.27.85.51.43 ext. +33, linda.pons@chu-lyon.fr
About this study
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.
- Being tested
- Physical examination and Urine and blood samples, Urine and blood samples
- Keywords
- Williams-Beuren Syndrome, Micro-duplication 7q11.23 syndrome, Vasculopathy
- Medical subject headings
- Williams Syndrome, Vascular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Physical examination and Urine and blood samplesBiological
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
Urine and blood samplesBiological
Only one visit for each participant
- Medical history
- Urine and blood samples
| Study group | Role | What they receive |
|---|---|---|
| Williams Beuren | Other | Subjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome. Receives: Biological: Physical examination and Urine and blood samples |
| Micro-duplication 7q11.23 | Other | Subjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome. Receives: Biological: Physical examination and Urine and blood samples |
| Healthy Group | Other | Subjects without cardiovascular and neurological medical history. Receives: Biological: Urine and blood samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Plasma level of elastin peptides (PE)
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
Measured: 1 day
Urinary level of elastin peptides (PE)
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
Measured: 1 day
Secondary outcomes (4)
Correlation between blood level of PE and cardiovascular involvement in patients.
Blood level of PE will be correlated with the presence / severity of cardiovascular disease
Measured: 1 day
Correlation between urinary level of PE and cardiovascular involvement in patients.
Urinary level of PE will be correlated with the presence / severity of cardiovascular disease
Measured: 1 day
Blood level of PE in treated and untreated minoxidil patients
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
Measured: 1 day
Urinary level of PE in treated and untreated minoxidil patients
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
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2019
- Study startOct 2019 (estimated)
- Primary completionOct 2021 (estimated)
- Study completionOct 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Williams-Beuren SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04051086
- Sponsor's protocol ID
- 69HCL18_0368
- Acronym
- ELAST7
- Status last verified
- Aug 2019
- First submitted
- 7 Aug 2019
- Last updated
- 12 Aug 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
- ClinicalTrials.gov ID
- NCT04051086
- Acronym / sponsor ID
- ELAST7 / 69HCL18_0368
- Keywords
- Williams-Beuren Syndrome, Micro-duplication 7q11.23 syndrome, Vasculopathy
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Oct 2019 (estimated)
- Primary completion
- Oct 2021 (estimated)
- Study completion
- Oct 2021 (estimated)
- First posted
- 9 Aug 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Williams Beuren | Other | Biological: Physical examination and Urine and blood samplesSubjects aged from 3 months to 60 years with a diagnosis confirmed with FISH of Williams Beuren syndrome. |
| Micro-duplication 7q11.23 | Other | Biological: Physical examination and Urine and blood samplesSubjects aged from 3 months to 60 years with a diagnosis confirmed with CGHarray of micro-duplication 7q11.23 syndrome. |
| Healthy Group | Other | Biological: Urine and blood samplesSubjects without cardiovascular and neurological medical history. |
Who may qualify
- Ages
- 3 months to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- No social insurance
- Subject under judicial protection
- Subject participating in another research including an exclusion period still in progress
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Physical examination and Urine and blood samplesOnly 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 | Biological | Micro-duplication 7q11.23, Williams Beuren |
| Urine and blood samplesOnly one visit for each participant * Medical history * Urine and blood samples | Biological | Healthy Group |
Primary outcome
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
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
4 secondary outcomes
Correlation between blood level of PE and cardiovascular involvement in patients.
Time frame: 1 day
Correlation between urinary level of PE and cardiovascular involvement in patients.
Time frame: 1 day
Blood level of PE in treated and untreated minoxidil patients
Time frame: 1 day
Urinary level of PE in treated and untreated minoxidil patients
Time frame: 1 day
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Aug 2019.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Physical examination and Urine and blood samples and Urine and blood samples in people with Williams-Beuren Syndrome and Micro-duplication 7q11.23 Syndrome, run by Hospices Civils de Lyon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Massimiliano ROSSI, Dr (04 27 85 55 72 ext. +33, Massimiliano.rossi@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Plasma level of elastin peptides (PE) (time frame: 1 day). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Aug 2019.