Clinical trials: Williams Syndrome
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
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, 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, Anxiety
Cognitive and Behavioral Therapy of Anxiety in Williams Syndrome
Patients with Williams-Beuren syndrome are eight times more likely to suffer from anxiety compared to the general population. Few therapeutic solutions are proposed to these patients.
- Trial name
- WILL-COPE (NCT03827525)
- Testing
- Cognitive and Behavioral Therapy
- Where
- France
- Volunteers
- 5 people
- Sponsor
- University Hospital, Montpellier
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Williams Syndrome, Angelman Syndrome
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II.
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome
- Trial name
- NCT00004351
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Williams Beuren Syndrome, Autism Spectrum Disorder
Molecular Characterization of Patients Affected by Williams Syndrome and Autism.
Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness…
- Trial name
- WBA (NCT04095585)
- Testing
- chromosomal microarray analysis (CMA) and whole exome sequencing (WES)
- Volunteers
- 6 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
Fat Distribution and Glucose Metabolism in Williams Syndrome
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and…
- Trial name
- NCT01864304
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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
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
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
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
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, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Williams Syndrome
Vitamin D Metabolism and the Williams Syndrome
The Williams syndrome is a disease in which supravalvular aortic stenosis, an elfin facies, mental retardation and other congenital defects are sometimes associated with abnormal vitamin D and calcium metabolism.
- Trial name
- NCT00013962
- Testing
- Vitamin D
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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)
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