Clinical trials: Williams Syndrome
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
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