Clinical trials: Williams Syndrome, open to volunteers
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)
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
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
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, 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, 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
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
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
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
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, 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
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