Williams Beuren Syndrome Clinical Trial
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.
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
n/a
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT04095585 -
Molecular Characterization of Patients Affected by Williams Syndrome and Autism.
|