Clinical trials: Williams Syndrome
Williams Syndrome, Supravalvular Aortic Stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02840448
- Where
- 2 sites in United States
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Williams Beuren Syndrome
Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
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…
- Trial name
- Williams (NCT00876200)
- Testing
- Minoxidil
- Where
- 18 sites in France
- Volunteers
- 21 people
- Sponsor
- Hospices Civils de Lyon
Williams Syndrome, Lipedema
Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study
Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. Dr.
- Trial name
- SHAAPE (NCT03758651)
- Where
- United States
- Volunteers
- 144 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Williams Syndrome
Motor Deficits and Signal Conduction in Individuals With Williams Syndrome
The current study aims to validate basic research findings of abnormal conductivity and motor abilities from a mouse model in humans.
- Trial name
- NCT05430763
- Where
- Israel
- Sponsor
- Sheba Medical Center
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD)
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program.
- Conditions
- Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder)
- Trial name
- GEN-HOPE (NCT07493096)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Healing Hope International
Williams Syndrome, Supravalvular Aortic Stenosis
Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank
Williams syndrome is a rare genetic disorder occurring in 1:8000-12,000 individuals. It is caused by the deletion of 25-27 coding genes, including elastin (ELN) on the 7th human chromosome.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02706639
- Where
- 3 sites in United States
- Volunteers
- 305 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
7q11.23 Microduplication Syndrome (7DUP), Autism Spectrum Disorder (ASD)
Characterization of the Natural History of Microduplication Syndrome 7q11.23
7q11.23 duplication syndrome (7q duplication syndrome/7DUP) is caused by a microduplication of the 7q11.23 chromosomal region, encompassing 26-28 genes, including the GTF2I gene.
- Conditions
- 7q11.23 Microduplication Syndrome (7DUP), Autism Spectrum Disorder (ASD), Neurodevelopmental Disorders (NDD)
- Trial name
- HINADU7 (NCT07469566)
- Testing
- clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- 2 sites in France
- Volunteers
- 15 people
- Sponsor
- Hospices Civils de Lyon
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Williams Syndrome, Anxiety
Buspirone Treatment of Anxiety in Williams Syndrome
The purpose of this study is to do a preliminary assessment of whether buspirone is effective, safe, and tolerable in the treatment of anxiety in children, adolescents, and adults with Williams syndrome.
- Trial name
- NCT04807517
- Testing
- Buspirone
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Massachusetts General Hospital