Clinical trials: Multiple Disability
Down Syndrome, Trisomy 21
Down Syndrome Metabolic Health Study
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01821300
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Prader Willi Syndrome, Hypoglycemia
Hypoglycemia in Prader-Willi Syndrome
This project will study whether infants with Prader-Willi Syndrome experience low blood sugars after short periods of fasting. This study will also evaluate metabolic markers in the blood to determine if infants with Prader-Willi…
- Trial name
- NCT01897363
- Testing
- Infants with Prader-Willi Syndrome
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Down Syndrome
Liq-NOL Efficacy in Pediatric Patients With Down Syndrome
The purpose of this study is to measure the effects of LiQ-NOL supplementation on language production using the Clinical Evaluation of Language Fundamentals test, language sampling using the mean length of utterance test, and…
- Trial name
- NCT00891917
- Testing
- Ubiquinol-10 Syrup
- Where
- United States
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Rubinstein-Taybi Syndrome
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit.
- Trial name
- GENEPI (NCT04122742)
- Testing
- skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included., Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy, Histone acetylation profiles of cells of SRT patients with CREBBP mutations
- Where
- France
- Volunteers
- 154 people
- Sponsor
- University Hospital, Bordeaux
Prader-Willi Syndrome, Obesity
Effects of Transcranial Direct Current Stimulation (tDCS) on Individuals With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypotonia, mental retardation, hyperphagia, and uncontrollable hunger due to hypothalamic dysfunction, caused by dysregulation of genes located in…
- Conditions
- Prader-Willi Syndrome, Obesity, Depressive Disorder, Obsessive-Compulsive Disorder
- Trial name
- NCT03324906
- Testing
- tDCS
- Where
- Brazil
- Volunteers
- 40 people
- Sponsor
- Federal University of São Paulo
Quality of Life, Down Syndrome
OHRQoL and Parental Perception in a Group of Children and Adolescents With Down Syndrome: A Cross
The aim of the study is to evaluate Oral Health related quality of life of children and adolescents with down syndrome and Parental Perception, knowledge and Attitude on oral health conditions of children and adolescents with…
- Conditions
- Quality of Life, Down Syndrome, Oral Health
- Trial name
- NCT04394221
- Where
- Egypt
- Volunteers
- 194 people
- Sponsor
- Cairo University
Prader-Willi Syndrome
The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics
Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients.
- Trial name
- NCT05791604
- Testing
- probiotics including B. lactis B420, B. lactis HN019, B. animalis Bb-12, L. rhamnosus GG, Prebiotics with galactomannan and oligofructose
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Fudan University
Down Syndrome
Correlations Phenotype / Genotype in Down Syndrome
The purpose of this study is to correlate phenotype and genotype of Down syndrome patients in order to identify the biochemical reactions involved in their mental retardation and their other phenotypic characteristics.
- Trial name
- INTREPID (NCT01034280)
- Where
- France
- Volunteers
- 524 people
- Sponsor
- Institut Jerome Lejeune
Obstructive Apnea
Comparison of a Demand Oxygen Delivery
Conducting a randomized control trial of oxygen in children with Down syndrome to treat moderate to severe obstructive sleep apnea.
- Trial name
- DOSA (NCT06609694)
- Testing
- Portable oxygen concentrator Inogen G5 model
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Down Syndrome
Aerobic Exercise With and Without Low Calorie Diet on Adiposity and BMI of Down Syndrome
Down syndrome (DS) is caused by trisomy 21, or the presence of an extra copy of chromosome 21. A calibrated weight scale is used to measure participants' weight accurately.
- Trial name
- NCT06943170
- Testing
- Aerobic Exercise and Low Calorie Diet
- Where
- Pakistan
- Volunteers
- 22 people
- Sponsor
- Riphah International University
Down Syndrome
Rebound Therapy on Ventilatory Functions in Down Syndrome
The purpose of this study is to examine the effects of rebound therapy on ventilatory functions in children with Down Syndrome.
- Trial name
- NCT07425353
- Testing
- Chest Physical Therapy Protocol, Rebound Therapy Protocol
- Volunteers
- 40 people
- Sponsor
- Beni-Suef University
Prader-Willi Syndrome
Therapeutic Effects of Hippotherapy in Children With Prader-Willi Syndrome
This study evaluates the therapeutic effects of hippotherapy in children with Prader-Willi syndrome. Half of children will participate in hippotherapy for 15 weeks (30 minutes per sessions, twice a week, total 30 sessions…
- Trial name
- NCT03858023
- Testing
- Hippotherapy
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- Samsung Medical Center
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Prader-Willi Syndrome
Open-Label Extension Study of DCCR in Patients With Prader-Willi Syndrome
The purpose of this is study is to evaluate the long-term safety of DCCR (diazoxide choline) extended-release tablets) in patients with Prader-Willi syndrome.
- Trial name
- NCT05701774
- Testing
- DCCR
- Where
- 22 sites in United States, United Kingdom
- Volunteers
- 77 people
- Sponsor
- Soleno Therapeutics, Inc.
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Down Syndrome
Nordic Walk on Balance and Functional Strength in Children With Down Syndrome
Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases.
- Trial name
- NCT06943508
- Testing
- Conventional Therapy, Nordic Walk
- Where
- Pakistan
- Volunteers
- 32 people
- Sponsor
- Riphah International University
Multiple Sclerosis
Longitudinal Assessment of Iron Rims in MS Lesions
In multiple sclerosis (MS), the presence of white matter lesions surrounded by a rim of iron is suggested to signify a more severe disease course.
- Trial name
- NCT05123443
- Testing
- Blood sample provided, 7-T MRI scan
- Where
- United Kingdom
- Volunteers
- 100 people
- Sponsor
- Nottingham University Hospitals NHS Trust
Down Syndrome
Shared Book Reading to Promote Mental Well-being Among Young People with and Without Down's Syndrome
Abstract Background: With the progress of society and the deepening of people's understanding of Down syndrome (DS), research has shifted focus on how to improve the quality of life and education for young people with DS.
- Trial name
- NCT06813625
- Testing
- Shared book reading intervention
- Where
- China
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Macau
Obstructive Sleep Apnea, Down Syndrome
Medications for Obstructive Sleep Apnea In Children With Down Syndrome
This is a randomized, double blind, cross-over study of the combination of atomoxetine and oxybutynin (ato-oxy) in children with DS and OSA documented by polysomnography (PSG).
- Trial name
- MOSAIC (NCT04115878)
- Testing
- Atomoxetine and oxybutynin (ato-oxy)
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- University of Arizona
Anxiety Disorders, Child Developmental Disorders, Pervasive
Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes
By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.
- Trial name
- NCT00879515
- Where
- United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of California, Davis