Clinical trials: Intellectual Disabilities Nutritional
Prader-Willi Syndrome
GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition
Prader-Willi syndrome (PWS) is a genetic disorder associated with growth hormone (GH) deficiency, central hypotonia and hyperphagia that leads to life-threatening obesity.
- Trial name
- NCT03616509
- Testing
- Growth hormone
- Where
- Spain
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Prader-Willi Syndrome
Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation
The present project project is divided in two parts. The primary aim of the part 1 of this study is to evaluate emotional control abilities of children with Prader-Willi syndrome (PWS) aged from 9 to 15 years and to study…
- Trial name
- PRACOM1 (NCT04526379)
- Testing
- Questionnaires, t-VNS
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Rett Syndrome
Nutritional Aspects of Rett Syndrome
OBJECTIVES: I. Determine dietary macronutrient intake in children with Rett syndrome and in healthy controls. II. Measure sleeping and awake metabolic rates in various positions, i.e., reclining, sitting, and standing, by…
- Trial name
- NCT00004656
- Testing
- Metabolic assessment with body composition evaluation
- Volunteers
- healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Prader-Willi Syndrome
PWS European Blood Bank for Infants and Controls From 0 to 48 Months
The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS.
- Trial name
- NCT02529085
- Testing
- blood samples
- Where
- 6 sites in Belgium, France and 4 more
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
X-linked Adrenoleukodystrophy
Registry of X-linked Adrenoleukodystrophy
This study is a observational study conducted through recruiting X-linked adrenoleukodystrophy (X-ALD) patients, to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients, and to provide a…
- Trial name
- NCT05939232
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Beijing Tiantan Hospital
Prader Willi Syndrome, Hyperphagia
Functional Connectome in Prader-Willi Syndrome: Neuroimaging and AI to Assess Therapeutic Impact
The goal of this observational study is to explore brain network changes and identify patterns related to hyperphagia, hormonal treatment effects, and cognitive deficits in adults with Prader-Willi Syndrome (PWS).
- Conditions
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- Trial name
- NCT06900335
- Testing
- GH treatment (Somatropin), Eating
- Where
- Spain
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Prader Willi Syndrome, Obesity
Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity
The problem point of the Prader-Willi Syndrome (PWS) patient is the obesity which is intense and the plasma ghrelin level which increases unusual from the recently PWS patients was discovered.
- Trial name
- NCT01404624
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Samsung 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
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Obesity, Prader-Willi Syndrome
Increased Expression of Adiponectin Receptor 2 in the Mononuclear Cells in Children With Prader-Willi Syndrome
The inflammatory process is involved in the pathogenesis of obesity. Prader-Willi syndrome (PWS) is a genetic model of syndromic obesity.
- Trial name
- NCT00800852
- Volunteers
- healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Obesity, Hypertension
HealthMatters@24/7 eLearning for People Supporting Adults With Intellectual and Developmental Disabilities
The barriers faced by people with intellectual and developmental disabilities (IDD) begin in their mid to late 20s and often mirror the experiences of older adults (50+) living in the U.S.
- Conditions
- Obesity, Hypertension, Hypercholesterolemia, Hyperglycemia
- Trial name
- HM@24/7 (NCT03206164)
- Testing
- Asynchronous, eLearning Intervention
- Where
- United States
- Volunteers
- 274 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Diabetes Mellitus, Type 2, Prediabetic State
Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
People with learning (intellectual) disabilities have more health problems than the rest of the population; they are less likely to access help and have lifestyles that may increase their risk of getting diabetes (for example…
- Conditions
- Diabetes Mellitus, Type 2, Prediabetic State, Intellectual Disability
- Trial name
- NCT02513277
- Where
- United Kingdom
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- University of Leicester
Prader-Willi Syndrome, Self-Injurious Behavior
Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder usually caused by the deletion of a specific gene. One of the symptoms of PWS is self-injurious behavior (SIB); a common form of SIB in PWS patients is skin picking.
- Trial name
- NCT00065923
- Testing
- Topiramate
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Prader-Willi Syndrome, Obesity
Plasma Adiponectin Level and Vascular Endothelial and Smooth Muscle Cell Function in Children With Prader-Willi Syndrome
Context: Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.
- Trial name
- NCT01479322
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Prader-Willi Syndrome
Stress and Brain Response Using MEG in PWS
Individuals with Prader-Willi Syndrome (PWS) have increased hunger and food seeking behaviour, as well as learning (cognitive) challenges.
- Trial name
- NCT04032639
- Where
- 2 sites in Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Prader-Willi Syndrome, Constipation
The Intestinal Function in People With Prader-Willi Syndrome
The projects aim is to investigate the intestinal function of patients suffering from Prader-Willi Syndrome. The methods used are ultrasonographic measurement of the rectal diameter and gastrointestinal transit time
- Conditions
- Prader-Willi Syndrome, Constipation, Incontinence
- Trial name
- NCT01523288
- Where
- Denmark
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Aarhus University Hospital
Obesity Prevention, Pediatric Obesity
Relationship Between Eating Patterns, Body Composition and the Detection of Fatty Liver in Children and Adolescents With Trisomy 21: LiverTy Project
Childhood obesity is a growing public health issue affecting millions of children worldwide, increasing the risk of metabolic and cardiovascular diseases in adulthood.
- Conditions
- Obesity Prevention, Pediatric Obesity, Trisomy 21, Down Syndrome (Trisomy 21)
- Trial name
- LiverTy (NCT06888570)
- Testing
- To evaluate fat liver content in the cases/controls population.
- Where
- Spain
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- IMDEA Food
Neurodegenerative Diseases, Leukodystrophy
Home Exercise for Individuals With Neurodegenerative Disease
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL
- Trial name
- NCT05443906
- Testing
- Home exercise
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital