Clinical trials: Williams Syndrome
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Williams Syndrome, Child
Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome
This study focuses on therapeutic targets for cognitive, motor, and social impairments in Williams syndrome by reversing brain myelin defects caused by GTF2I.
- Conditions
- Williams Syndrome, Child, Neurodevelopmental Delay
- Trial name
- NCT06315699
- Testing
- Clemastine Fumarate Tablets, corn starch tablets
- Where
- China
- Volunteers
- 28 people
- Sponsor
- Qilu Hospital of Shandong University
Williams Syndrome
Response Inhibition Training for Children With Williams Syndrome
The investigators will conduct a pilot study investigating the effectiveness of a computerized response inhibition training program at reducing the response inhibition difficulties often seen in children with Williams syndrome…
- Trial name
- WSRIT (NCT02212314)
- Testing
- Response Inhibition Training
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of Wisconsin, Milwaukee
Velocardiofacial Syndrome, Williams Syndrome
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to…
- Conditions
- Velocardiofacial Syndrome, Williams Syndrome, Fragile X Syndrome
- Trial name
- VCFS (NCT00768820)
- Testing
- methylphenidate, fluoxetin, risperidone
- Where
- Israel
- Volunteers
- 400 people
- Sponsor
- The Chaim Sheba Medical Center
Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
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.
- Conditions
- Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome, Vasculopathy
- Trial name
- ELAST7 (NCT04051086)
- Testing
- Physical examination and Urine and blood samples, Urine and blood samples
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Williams Syndrome, Autism Disorder
Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7.
- Trial name
- WS and ASD (NCT07509879)
- Where
- China
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University
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
Williams Syndrome, Induced Pluripotent Stem Cell (Ips Cell)
A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
This study aims to collect peripheral blood samples from children with Williams syndrome (WS) and healthy children, establish a cell line of induced pluripotent stem cells (iPSCs) derived from the subjects, and further induce and…
- Trial name
- NCT07537374
- Testing
- one-time peripheral blood collection
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University
Fragile X Syndrome, Williams Syndrome
Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome
Fragile X Syndrome (FXS) and Williams-Beuren Syndrome (WBS) are relatively rare disorders characterized by developmental delay associated to socio-communicative deficit and autistic-like behaviours.
- Trial name
- NCT04610424
- Testing
- Cooperative Parent Mediated Therapy" (CPMT), As usual
- Where
- Italy
- Volunteers
- 14 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Williams Syndrome, Cardiovascular Disease
WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
Background: Williams Syndrome (WS) is a genetic disorder. People with WS have less of a protein that allows parts of the body to stretch than other individuals.
- Conditions
- Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion
- Trial name
- NCT02692846
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Williams Syndrome
Clemastine Treatment in Individuals With Williams Syndrome
This study explores the neurobiological etiology of Williams syndrome and potential therapeutic targets for associated social, motor, and cognitive abnormalities.
- Trial name
- NCT06087757
- Testing
- Open Label Clemastine with a blinded randomize withdrawal
- Where
- 2 sites in Israel
- Volunteers
- 30 people
- Sponsor
- Sheba Medical Center
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
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 Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
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 Syndrome, Language
Phonological Constraints on Language Development in Individuals With Williams Syndrome
Williams syndrome (WS) is a neurodevelopmental disease characterized by mild to moderate intellectual disability and an extremely heterogeneous cognitive profile.
- Conditions
- Williams Syndrome, Language, Phonological Short-Term Memory, EEG-NIRS
- Trial name
- SOUNDS (NCT07285720)
- Testing
- EEG-NIRS protocol, Questionnaire
- Where
- France
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Mental Disorders
Effects of Emotion on Episodic Memory in Typically Developing Children and Children With Williams-Beuren Syndrome
It's well established in the literature that emotional events are more likely to be remembered than neutral events. Although this Emotional Enhancement of Memory (EEM) has been well demonstrated in the adult literature, little is…
- Trial name
- EEM-TAdev (NCT03688516)
- Testing
- Manipulation of valence and modality, Spatial and recognition memory, Source and content memory
- Where
- France
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier