Williams Beuren SyndromePhase 2WilliamsNCT00876200
Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
A Phase 2 study testing Minoxidil in people with Williams Beuren Syndrome, run by Hospices Civils de Lyon at 18 sites in France.
Trial summary
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus. Read more about this study
- Who is it for?
- Ages 6 to 18 years
- Conditions the study is for
- Williams Beuren Syndrome
- What is being tested?
- Minoxidil
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 21 participants
- Where
- 18 sitesFrance
- Study dates
- Mar 2009to Aug 2015
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 6 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- proven diagnosis of Williams Beuren syndrome (genetic test)
- normotension or hypertension, treated or not
- male or female,
- 6< age <18,
- negative pregnancy test for childbearing potential female
- effective birth control for sexually active female
- signed consent form collected from parents or legal guardian
Who cannot join
- pulmonary hypertension secondary to mitral stenosis
- myocardial infarction within 1 month prior randomization
- known allergies to minoxidil or any of the components of Lonoten.
- asthma
- renal failure (creatinine clearance <40ml/min)
- no affiliation to a national health insurance program (social security)
- intolerance to lactose
- current vasodilator anti hypertensive treatment
Trial locations and contacts
18 sites in 1 country.
18 sites in 1 country
France18 sites
Service de Cardiologie Pédiatrique, CHU Angers
Angers, 49033
Service de Cardiologie, Hôpital Saint-André, CHU Bordeaux
Bordeaux, 33075
Service de Néphrologie Pédiatrique, Hôpital Pellegrin, CHU Bordeaux
Bordeaux, 33076
Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux
Bordeaux
Département de Pédiatrie, Hôpital Femme Mère Enfant
Bron, 69677
Service de Cardiologie Pédiatrique, Hôpital Cardiovasculaire L. Pradel
Bron, 69677
Service Cardiologie, CHU St Jacques
Clermont-Ferrand, 63000
Département de Pédiatrie- Service de Cardiologie, CHU Grenoble
Grenoble, 38043
Service de Néphrologie Pédiatrique, CHRU de Lille
Lille, 59000
Service des Maladies Cardiovasculaires Infantiles et Congénitales, CHRU Lille
Lille, 59000
Service de Cardiologie Infantile, CHU Nancy
Nancy, 54511
Service de Cardiologie Pédiatrique, Hôpital Necker Enfants Malades
Paris, 75015
Service de Physiologie, Explorations Fonctionnelles, Hôpital Robert Debré
Paris, 75019
Unité de Pharmacologie Clinique, Hôpital Robert Debré
Paris, 75019
Service de Pathologie Cardiaque Congénitale du Fœtus, de l'Enfant et de l'Adulte, Hôpital Haut Lévêque, CHU de Bordeaux
Pessac, 33604
Service de Génétique Médicale, CHU La Milétrie
Poitiers, 86021
Service de Cardiologie - Hôpital des Enfants
Toulouse, 31059
Service de Néphrologie Pédiatrique - Hôpital des Enfants, CHU Toulouse
Toulouse, 31059
About this study
Official title: The Efficacy of Minoxidil in Children With Williams-Beuren Syndrome: a Randomized Clinical Trial.
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus.
Elastin, which is part of the extracellular matrix, controls proliferation of vascular smooth muscle cells (VSMCs) and stabilizes arterial structure. Loss of elastin gene in WBS patients has been claimed to provide a biological basis for the abnormal elastic fibre properties leading to cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), hypertension, arteriosclerosis and stenosis in more than 50% of WBS children.
Read more
These cardiovascular pathologies result in important consequences and neither curative nor preventive medicinal treatments exist at this time. Surgery is needed in more than half cases, while it is often leading to complications.
Minoxidil is a well-known antihypertensive drug used in adults and children. Furthermore, according to animal studies, minoxidil seems to increase arterial elastin content by decreasing elastase activity in these tissues. Other data demonstrate that minoxidil specifically stimulate elastin synthesis.
Working Hypothesis:If insufficient elastin synthesis leads to vascular complications and arterial hypertension in children with WBS, restoration of sufficient quantity of elastin should then result in prevention or inhibition of vascular malformations and improvement in arterial tension. Therefore, as a pharmacological agent capable to stimulate elastin expression, minoxidil might be a useful drug for the treatment of abnormal elastin metabolism in WBS children.
Objective:To evaluate the efficacy of minoxidil on cardiovascular structure in children with Williams Beuren syndrome.
Methodology: randomized controlled trial on two parallel group (23 patients in each arm) Main criterion:variation of carotid Intima-media thickness (IMT) before and after 12 months of treatment with Minoxidil versus placebo Secondary intermediate criteria of the vascular properties are arterial stiffness, cardiac and renal stenosis, arterial tension.
Total study duration:30 months including a 12 month-recruitment period
- Conditions
- Williams Beuren Syndrome
- Being tested
- Minoxidil, Placebo
- Keywords
- Williams Beuren syndrome, Cardiovascular abnormalities, Cardiovascular structure
- Medical subject headings
- Williams Syndrome, Cardiovascular Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MinoxidilDrug
Normotension: 0.2mg/kg/day for children under 12 and 5mg/day for children aged 12 or more.
Hypertension: 0.2mg/kg/day, increasing up to a maximal dosage of 1 mg/kg) for children under 12. 5mg/day, increasing as needed of 0.1 mg/kg/day (up to a maximal dosage of 40 mg/day) for children aged 12 or more.
PlaceboDrug
Normotension: 0.2mg/kg/day for children under 12 and 5mg/day for children aged 12 or more.
Hypertension: 0.2mg/kg/day, increasing up to a maximal dosage of 1 mg/kg) for children under 12. 5mg/day, increasing as needed of 0.1 mg/kg/day (up to a maximal dosage of 40 mg/day) for children aged 12 or more.
| Study group | Role | What they receive |
|---|---|---|
| Minoxidil | Experimental | Normotension: 0.2mg/kg/day for children under 12 and 5mg/day for children aged 12 or more.
Hypertension: 0.2mg/kg/day, increasing up to a maximal dosage of 1 mg/kg) for children under 12. 5mg/day, increasing as needed of 0.1 mg/kg/day (up to a maximal dosage of 40 mg/day) for children aged 12 or more. Receives: Drug: Minoxidil |
| Placebo | Placebo comparator | Placebo = lactose Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Variation of Carotid Intima-media Thickness (IMT) Assessed by Vascular Echography
Measured: 12 months
Secondary outcomes (6)
Efficacy of Minoxidil on Humeral IMT Assessed by Vascular Echography
Measured: 18 months
Efficacy of Minoxidil on Arterial Stiffness (Pulse Wave Velocity and Vascular Compliance at J0, M12 and M18)
Measured: 18 months
Efficacy of Minoxidil on Supravalvular Stenosis, Pulmonary Stenosis, Aortic Stenosis and Renal Stenosis (Cardiac and Renal Echodoppler at J0, and M12)
Measured: 12 months
Efficacy of Minoxidil on Arterial Tension (24H-Holter at J0 and M12)
Measured: 12 months
Effect of Minoxidil on Neurohumoral Mechanisms of Cardiovascular Regulation and on Plasmatic Markers of the Extracellular Matrix.
Measured: 12 months
Genetic Study: Characterization of Deletions Responsible for WBS (Size Deletion, DNA Sample at Inclusion).
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Apr 2009 (estimated)
- Study startMar 2009
- Primary completionFeb 2015
- Study completionAug 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- 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 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Behrouz KASSAI, MD, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00876200
- Sponsor's protocol ID
- 2006.437/30
- Acronym
- Williams
- Status last verified
- Jan 2016
- First submitted
- 3 Apr 2009
- Last updated
- 30 Sep 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Publications
Kassai B, Bouye P, Gilbert-Dussardier B, Godart F, Thambo JB, Rossi M, Cochat P, Chirossel P, Luong S, Serusclat A, Canterino I, Mercier C, Rabilloud M, Pivot C, Pirot F, Ginhoux T, Coopman S, Grenet G, Gueyffier F, Di-Fillippo S, Bertholet-Thomas A. Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial. BMC Pediatr. 2019 May 28;19(1):170. doi: 10.1186/s12887-019-1544-1.
PubMed 31138170
Study at a glance
From the registry record, last updated by the sponsor on 30 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Efficacy of Minoxidil in Children With Williams-Beuren Syndrome: a Randomized Clinical Trial.
- ClinicalTrials.gov ID
- NCT00876200
- Acronym / sponsor ID
- Williams / 2006.437/30
- Conditions
- Williams Beuren Syndrome
- Keywords
- Williams Beuren syndrome, Cardiovascular abnormalities, Cardiovascular structure
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 21 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Mar 2009
- Primary completion
- Feb 2015 (actual)
- Study completion
- Aug 2015 (actual)
- First posted
- 6 Apr 2009 (estimated)
- Results
- Posted 26 Jul 2019
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus.
Elastin, which is part of the extracellular matrix, controls proliferation of vascular smooth muscle cells (VSMCs) and stabilizes arterial structure. Loss of elastin gene in WBS patients has been claimed to provide a biological basis for the abnormal elastic fibre properties leading to cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), hypertension, arteriosclerosis and stenosis in more than 50% of WBS children.
These cardiovascular pathologies result in important consequences and neither curative nor preventive medicinal treatments exist at this time. Surgery is needed in more than half cases, while it is often leading to complications.
Minoxidil is a well-known antihypertensive drug used in adults and children. Furthermore, according to animal studies, minoxidil seems to increase arterial elastin content by decreasing elastase activity in these tissues. Other data demonstrate that minoxidil specifically stimulate elastin synthesis.
Working Hypothesis:If insufficient elastin synthesis leads to vascular complications and arterial hypertension in children with WBS, restoration of sufficient quantity of elastin should then result in prevention or inhibition of vascular malformations and improvement in arterial tension. Therefore, as a pharmacological agent capable to stimulate elastin expression, minoxidil might be a useful drug for the treatment of abnormal elastin metabolism in WBS children.
Objective:To evaluate the efficacy of minoxidil on cardiovascular structure in children with Williams Beuren syndrome.
Methodology: randomized controlled trial on two parallel group (23 patients in each arm) Main criterion:variation of carotid Intima-media thickness (IMT) before and after 12 months of treatment with Minoxidil versus placebo Secondary intermediate criteria of the vascular properties are arterial stiffness, cardiac and renal stenosis, arterial tension.
Total study duration:30 months including a 12 month-recruitment period
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Minoxidil | Experimental | Drug: MinoxidilNormotension: 0.2mg/kg/day for children under 12 and 5mg/day for children aged 12 or more. Hypertension: 0.2mg/kg/day, increasing up to a maximal dosage of 1 mg/kg) for children under 12. 5mg/day, increasing as needed of 0.1 mg/kg/day (up to a maximal dosage of 40 mg/day) for children aged 12 or more. |
| Placebo | Placebo comparator | Drug: PlaceboPlacebo = lactose |
Who may qualify
- Ages
- 6 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- proven diagnosis of Williams Beuren syndrome (genetic test)
- normotension or hypertension, treated or not
- male or female,
- 6< age <18,
- negative pregnancy test for childbearing potential female
Key exclusion criteria (8 listed)
- pulmonary hypertension secondary to mitral stenosis
- myocardial infarction within 1 month prior randomization
- known allergies to minoxidil or any of the components of Lonoten.
- asthma
- renal failure (creatinine clearance <40ml/min)
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 |
|---|---|---|
| MinoxidilNormotension: 0.2mg/kg/day for children under 12 and 5mg/day for children aged 12 or more. Hypertension: 0.2mg/kg/day, increasing up to a maximal dosage of 1 mg/kg) for children under 12. 5mg/day, increasing as needed of 0.1 mg/kg/day (up to a maximal dosage of 40 mg/day) for children aged 12 or more. | Drug | Minoxidil |
| PlaceboNormotension: 0.2mg/kg/day for children under 12 and 5mg/day for children aged 12 or more. Hypertension: 0.2mg/kg/day, increasing up to a maximal dosage of 1 mg/kg) for children under 12. 5mg/day, increasing as needed of 0.1 mg/kg/day (up to a maximal dosage of 40 mg/day) for children aged 12 or more. | Drug | Placebo |
Primary outcome
Variation of Carotid Intima-media Thickness (IMT) Assessed by Vascular Echography
Time frame: 12 months
6 secondary outcomes
Efficacy of Minoxidil on Humeral IMT Assessed by Vascular Echography
Time frame: 18 months
Efficacy of Minoxidil on Arterial Stiffness (Pulse Wave Velocity and Vascular Compliance at J0, M12 and M18)
Time frame: 18 months
Efficacy of Minoxidil on Supravalvular Stenosis, Pulmonary Stenosis, Aortic Stenosis and Renal Stenosis (Cardiac and Renal Echodoppler at J0, and M12)
Time frame: 12 months
Efficacy of Minoxidil on Arterial Tension (24H-Holter at J0 and M12)
Time frame: 12 months
Effect of Minoxidil on Neurohumoral Mechanisms of Cardiovascular Regulation and on Plasmatic Markers of the Extracellular Matrix.
Time frame: 12 months
Genetic Study: Characterization of Deletions Responsible for WBS (Size Deletion, DNA Sample at Inclusion).
Time frame: Day 0
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Sep 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Results publication: PubMed 31138170Kassai B, Bouye P, Gilbert-Dussardier B, Godart F, Thambo JB, Rossi M, Cochat P, Chirossel P, Luong S, Serusclat A, Canterino I, Mercier C, Rabilloud M, Pivot C, Pirot F, Ginhoux T, Coopman S, Grenet G, Gueyffier F, Di-Fillippo S, Bertholet-Thomas A. Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial. BMC Pediatr. 2019 May 28;19(1):170. doi: 10.1186/s12887-019-1544-1.
- Related InfoLink provided by the sponsor.
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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.
Behrouz KASSAI, MD principal investigator
Hospices Civils de Lyon
18 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Minoxidil in people with Williams Beuren Syndrome, run by Hospices Civils de Lyon at 18 sites 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 7 inclusion and 8 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: finished, as of the sponsor's last update on 30 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 18 sites 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. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 26 Jul 2019). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Variation of Carotid Intima-media Thickness (IMT) Assessed by Vascular Echography (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00876200, which also lists 1 linked publication.
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 30 Sep 2025.