Clinical trials: Chromosome Abnormalities
Angelman Syndrome
A Study in Adults and Adolescents With Angelman Syndrome (STARS)
The purpose of the study is to assess the safety and tolerability of oral OV101 (gaboxadol) in adult and adolescent subjects with Angelman syndrome. In addition, several exploratory efficacy outcome measures will be investigated.
- Trial name
- NCT02996305
- Testing
- OV101 Regimen 1, OV101 regimen 2
- Where
- 13 sites in United States, Israel
- Volunteers
- 88 people
- Sponsor
- Healx AI
Angelman Syndrome
Angelman Syndrome Natural History Study-FAST UK
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults.
- Trial name
- NCT05100810
- Testing
- Natural History Study
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- University of Oxford
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Trisiomy 21 (Down Syndrome)
Vitamins and Minerals for Children With Downs Syndrome
The trial aimed to examine the effects of supplementation with antioxidants and folinic acid on the health, growth and psychomotor development of children with Down syndrome.
- Trial name
- NCT00378456
- Testing
- Antioxidants- (Vitamins A,C,E Selenium and Zinc), Folinic acid, Vitamins A,C,E Selenium and Zinc and Folinic acid.
- Where
- 3 sites in United Kingdom
- Sponsor
- Institute of Child Health
Down Syndrome
Promoting Health Through Parent Empowerment and the Activation of Routines (PrO-PEAR)
This study will examine the feasibility of the Promoting Health through Parent Empowerment and the Activation of Routines (Pro-PEAR) intervention using a open case-series for intervention optimization followed by a pilot RCT in…
- Trial name
- Pro-PEAR (NCT05020366)
- Testing
- Promoting Health through Parent Empowerment and the Activation of Routines, Enhanced Usual Care
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Pittsburgh
Down Syndrome
Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21
Patients with trisomy 21 are in greater danger of developing caries. It has been hypothesized that adding silver nanoparticles to fluor varnishes could promote remineralization of the teeth.
- Trial name
- NCT01975545
- Testing
- Fluor varnish, Fluor varnish with nanoparticles
- Where
- Mexico
- Volunteers
- 20 people
- Sponsor
- Universidad Autonoma de San Luis Potosí
Down Syndrome
Action Observation Therapy on Balance in Children With Down Syndrome
Down syndrome is a condition in which a child is born with an extra copy of their 21st chromosome hence its other name is trisomy 21.
- Trial name
- NCT06198075
- Testing
- Control Group, Experimental Group
- Where
- Pakistan
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Obstructive Sleep Apnea (OSA), Down Syndrome
Endotype DIrected Treatment for OSA in Down Syndrome
Down syndrome is the most common genetic cause of intellectual disability. People with Down syndrome often have obstructive sleep apnea (OSA), a condition where people have difficulties with breathing while asleep.
- Trial name
- EDIT OSA (NCT07280468)
- Testing
- ato-oxy, Oxygen
- Where
- 5 sites in United States
- Volunteers
- 200 people
- Sponsor
- University of Arizona
Down Syndrome, Cognitive Dysfunction
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 6 To 10
The purpose of this study is to determine the efficacy and safety of donepezil hydrochloride (Aricept) in the treatment of cognitive dysfunction shown by children with Down syndrome, aged 6 to 10 years.
- Trial name
- NCT00754013
- Testing
- Aricept (Donepezil hydrochloride)
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Eisai Inc.
Down Syndrome, Speech and Language Disorder
Building Sentences With Preschoolers Who Use AAC
The focus of this investigation is to compare the effectiveness of the AAC Generative Language Intervention approach to an AAC Standard of Care condition on preschool sentence productions.
- Conditions
- Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility
- Trial name
- NCT03538925
- Testing
- AAC Generative Language Intervention, Standard of Care / Business as Usual
- Where
- 2 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X-Linked, Genetic Diseases, X-Linked
- Trial name
- NCT03862950
- Testing
- Metformin
- Where
- 2 sites in Canada
- Volunteers
- 125 people
- Sponsor
- University of Alberta
Prader-Willi Syndrome
Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injuries Behavior Associated With Prader-Willi Syndrome
This is a placebo-controlled clinical trial to assess the utility of Guanfacine Extended Release (GXR) in the management of patients with Prader Willi Syndrome (PWS) who have significant aggression or self-injury.
- Trial name
- NCT04066088
- Testing
- Guanfacine extended release (GXR)
- Where
- United States
- Sponsor
- NYU Langone Health
Turner Syndrome
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality.
- Trial name
- Turner-Ylc (NCT06202846)
- Testing
- cfDNA analysis
- Where
- 2 sites in France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Strasbourg, France
Velo-cardio-facial Syndrome, Psychosis
Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome
This is an exploratory clinical investigation. The objectives of this study are to evaluate the safety, steady-state pharmacokinetics, and efficacy of metyrosine (Demser®) for the treatment of psychosis in patients with…
- Trial name
- NCT01127503
- Testing
- Metyrosine
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Bausch Health Americas, Inc.
Dysarthria, Down Syndrome
Intensive Dysarthria Sessions in Adults and Children With Down Syndrome
This research study is designed to investigate the feasibility and treatment effects of a behavioral speech treatment in adults and children with Down Syndrome (DS) and dysarthria.
- Trial name
- NCT01684670
- Testing
- Speech sessions
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Down Syndrome
Effect of the Sensory Integration Approach on Balance and Motor Coordination in Children With Down Syndrome
Down syndrome can be characterized by global mental and physical dysfunction or isolated gait, cognition, growth, or sensory disturbances.
- Trial name
- NCT05583565
- Testing
- sensory integration approach, traditional physical therapy program
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Down Syndrome
Proactive Speech and Language Intervention for Infants With Down Syndrome
Children with Down syndrome (DS) face life-long struggles with verbal communication. Babble and speech sound development is delayed, and speech can be difficult to understand.
- Trial name
- BBC-DS (NCT06450509)
- Testing
- Babble Boot Camp
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Arizona State University
Down Syndrome
Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People
This is the first study about Neuropsychological function and OSAS in Taiwan. Although the correlation between OSAS and neuropsychological abnormalities had been reported, it is worth to understand more about the detailed domains…
- Trial name
- NCT03267602
- Testing
- CPAP
- Volunteers
- 45 people
- Sponsor
- National Taiwan University Hospital
Down Syndrome
Physiological Abnormalities Associated with Down Syndrome
The overall goal of this study is to evaluate biomarkers of oxidative stress, mitochondrial function, and DNA methylation (epigenetics) in order to determine the extent to which these biomarkers are related to cognitive…
- Trial name
- NCT03087500
- Testing
- There is no other intervention, only clinical treatment.
- Sponsor
- University of Arkansas