Clinical trials: Intellectual Disabilities Nutritional
Prader-Willi Syndrome
Respiratory Restriction in Prader-Willi Syndrome
The main aim of this study is therefore to evaluate the impact of Prader Willi Syndrome (PWS) on lung and thoracoabdominal volumes, respiratory muscle strength and awake ventilatory pattern, and to quantify and localize the…
- Trial name
- RESPIPWS (NCT06851351)
- Testing
- Spirometry and optoelectronic plethysmography
- Where
- Italy
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Istituto Auxologico Italiano
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
X-linked Adrenoleukodystrophy
Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy
CALD is an inflammatory demyelinating disease that causes severe motor and cognitive deficit leading to rapid death. Hematopoietic stem cell transplantation (HSCT) can halt neuroinflammation in CALD through the replacement of…
- Trial name
- CALDIFF (NCT05911919)
- Testing
- brainQuant module of brainTale-care platform
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Diastolic Dysfunction, Neonatal Encephalopathy
Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography
The goal of this single-centre longitudinal observational study is to create reference values for diastolic function parameters in neonates born at 35 weeks' gestation or above, and to assess the influence of pre-defined…
- Conditions
- Diastolic Dysfunction, Neonatal Encephalopathy, Small for Gestational Age at Delivery, Transient Tachypnea of the Newborn
- Trial name
- DiFuSE (NCT06200519)
- Where
- Ireland
- Volunteers
- 216 people, healthy volunteers welcome
- Sponsor
- University College Cork
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Prader-Willi Syndrome, Obesity
Plasma Adiponectin Level and Sleep Structures in Children With Prader-Willi Syndrome
Context: Adiponectin is an adipose tissue-derived hormone with an insulin sensitizing effect, and has been related to obstructive sleep apnea syndrome.
- Trial name
- NCT01622751
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Healthy
A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of OP-101 After Intravenous Administration in Healthy Volunteers
A clinical study to measure the effect of OP-101 after being administered intravenously in healthy volunteers.
- Trial name
- NCT03500627
- Testing
- OP-101
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Orpheris, Inc.
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Down Syndrome, Child Obesity
HomeGrown: A Family-based Lifestyle Intervention to Support Healthy Development of Young Children With Down Syndrome
The goal of this project is to evaluate an adapted health promotion program, HomeGrown, designed to improve the health of young children with Down syndrome by supporting families in making healthy home environmental changes.
- Trial name
- HomeGrown (NCT07296861)
- Testing
- The HomeGrown, Waitlist
- Where
- United States
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Developmental Disability, Chronic Disease
QoL and Stress in Parents of Children With Developmental Disabilities and Chronic Disease
The aim of this cross-sectional study is to investigate the level of stress and quality of life in parents of children with developmental disabilities (Down syndrome, autism spectrum disorder, pervasive developmental disorder…
- Conditions
- Developmental Disability, Chronic Disease, Down Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03602378
- Testing
- salivary cortisol, Holter Medilog AR12 Plus, Polar V800
- Where
- 2 sites in Croatia
- Volunteers
- 592 people, healthy volunteers welcome
- Sponsor
- University of Split, School of Medicine
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
All Diagnosed Health Conditions, ADD/ADHD
At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
We are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research.
- Conditions
- All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis
- Trial name
- NCT01931644
- Where
- United States
- Volunteers
- 17,667 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Leukemia, Myeloid, Acute, Leukemia, B-cell
Precision Exercise in Children With Malignant Hemopathies
In the early years of life and during adolescence, physical activity is crucial for good development of motor skills. It is even more so for those children and young people who are forced to undergo anti-cancer therapies and…
- Conditions
- Leukemia, Myeloid, Acute, Leukemia, B-cell, Leukemia, T Cell, Lymphoma, Hodgkin
- Trial name
- SportTherapy (NCT04090268)
- Testing
- Sport Therapy
- Where
- Italy
- Volunteers
- 380 people, healthy volunteers welcome
- Sponsor
- University of Milano Bicocca
Obesity
School-based Physical Activity Intervention for Obesity Among Adolescents With Intellectual Disability in Hong Kong
Considering that children with intellectual disability (ID) might be more vulnerable to obesity than their counterparts in the general population.
- Trial name
- NCT04463069
- Testing
- Adapted physical activity
- Where
- China
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- Hong Kong Baptist University
Prader-Willi Syndrome
Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome
The purpose of this study is to investigate the effects of a GLP-1 agonist on satiety hormones in patients with Prader-Willi Syndrome (genetic defect causing obesity).
- Trial name
- NCT00551343
- Testing
- Exenatide
- Where
- Australia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Garvan Institute of Medical Research
Prader-Willi Syndrome
A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR)
Open label, parallel-group, single site, 5 treatment-period study with 4 dose levels of DCCR, 1 of which is administered both with and without food.
- Trial name
- NCT02893618
- Testing
- Diazoxide choline controlled-release tablet
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Essentialis, Inc.
Hyperphagia, Prader-Willi Syndrome
Pilot Study of Startle-response Test to Assess Transcranial Direct Current Stimulation-induced Modulation of Hyperphagia in Prader-Willi Syndrome
The purpose of this study is to determine the effects of transcranial direct current stimulation (tDCS) as it modifies hyperphagia in obese subjects, non-obese subjects, and subjects with Prader-Willi syndrome (PWS).
- Trial name
- NCT01863017
- Testing
- tDCS
- Where
- 3 sites in United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International