Clinical trials: Disabilities, Intellectual
Williams Syndrome, Supravalvular Aortic Stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02840448
- Where
- 2 sites in United States
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome
Rare Diseases Clinical Research Network: Neurophysiological Correlates
The overall purpose of this project is to advance understanding of the neurophysiological features of Rett syndrome (RTT), MECP2 Duplication (MECP2 Dup) and RTT-related disorders (CDKL5, FOXG1) to gain insight into disease…
- Conditions
- Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome, Rett-related Disorders
- Trial name
- NCT03077308
- Testing
- Auditory and Visual Event-related Potentials and EEG
- Where
- 5 sites in United States
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Chromosomal Aneuploidies (e.g., Trisomy 21, Trisomy 18, Trisomy 13); Prenatal Screening Accuracy
Evaluation of Fetal Bladder Emptying During the 11-14 Weeks' Ultrasound Examination as a Negative Predictive Marker for Chromosomal Abnormalities
Template-Based Brief Summary (Sağlık Profesyonelleri İçin) Study Title: The Negative Predictive Value of First-Trimester Fetal Bladder "Rapid Emptying" (≤40 minutes and post-void ≤2 mm) for Major Chromosomal Aneuploidies: A…
- Trial name
- NCT07165743
- Testing
- 40-Minute Real-Time First-Trimester Ultrasonography
- Where
- Turkey (Türkiye)
- Volunteers
- 270 people, healthy volunteers welcome
- Sponsor
- Haseki Training and Research Hospital
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
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Parkinson Disease, Huntington Disease
A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions
Measurement of metabotropic glutamate receptor type 5 (mGluR5) binding capacity in the brain, may be a valuable tool in the early detection, understanding, or evaluation of Parkinson disease (PD), Huntington disease (HD), Fragile…
- Conditions
- Parkinson Disease, Huntington Disease, Autistic Spectrum Disorders, Fragile X Syndrome
- Trial name
- FPEB (NCT00870974)
- Testing
- [18F]FPEB
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Institute for Neurodegenerative Disorders
Down Syndrome
Effects of Vojta Therapy on Functional Mobility and Gait Parameters in Children With Down Syndrome
This randomized clinical trial investigates the effects of Vojta therapy on functional mobility and gait parameters in children with down syndrome.
- Trial name
- NCT07248267
- Testing
- Vojta Therapy, repetitive sensorimotor exercises
- Where
- Pakistan
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Down Syndrome, Chromosome Abnormalities
Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters
Too much or too little genetic information (chromosome material) can cause abnormal development of the fetus or death. Each year approximately 2.5 million pregnant women are screened for Down Syndrome using invasive screening…
- Trial name
- NCT00006445
- Testing
- Ultrasound, Serum screen
- Where
- 10 sites in United States
- Volunteers
- 38,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Intellectual Disability, Mild
Effects of Structured Physical Activity Breaks and Free Play in Children With Mild Intellectual Disability
Children with mild intellectual disability (MID) typically exhibit delays in both intellectual and adaptive functioning, with the onset occurring during the developmental period.
- Trial name
- NCT06943196
- Testing
- Structured physical activity break
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Down Syndrome, Congenital Heart Disease
Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)
The study objective is to compare neurodevelopmental (ND) and behavioral outcomes between children with Down syndrome (DS) who had complete atrioventricular septal defect (CAVSD) repair and children from the same clinical sites…
- Trial name
- CHILD-DS (NCT05312177)
- Testing
- Stanford Binet Intelligence Scales, Fifth Edition, Vineland Adaptive Behavior Scales Third Edition, Peabody Picture Vocabulary Test, Fifth Edition
- Where
- 14 sites in United States, Canada
- Volunteers
- 273 people, healthy volunteers welcome
- Sponsor
- Carelon Research
Down Syndrome, Patau Syndrome
Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies
The purpose of this study is to evaluate the performance of the IONA® test which is a non-invasive prenatal test (NIPT) for Down's syndrome and other chromosomal abnormalities in twin pregnancies, from a maternal blood sample.
- Conditions
- Down Syndrome, Patau Syndrome, Edward's Syndrome
- Trial name
- TWIN (NCT03200041)
- Testing
- Blood sample
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Premaitha Health
Down Syndrome
Blood Flow Regulation in Individuals With Down Syndrome - Training Study
Work capacity is an important predictor of declining health or physical function, and of mortality, and is commonly measured as peak oxygen consumption.
- Trial name
- NCT04854122
- Testing
- Combined exercise intervention
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Down Syndrome
Remote Exercise Study for Individuals With Down Syndrome
This pilot study aims to test whether remote delivery of the exercise intervention provides a sufficient training stimulus. This pilot study will be remote and online-only, and will have no in-person interaction, data collection…
- Trial name
- NCT04647851
- Testing
- Remote exercise intervention Down syndrome
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Phelan-McDermid Syndrome, Autism Spectrum Disorder
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments.
- Conditions
- Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
- Trial name
- NCT02461420
- Where
- 5 sites in United States
- Volunteers
- 207 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Down Syndrome, Prenatal Stress
Amniotic Fluid Ischemia Modified Albumin as a Novel e Prenatal Diagnostic Marker for Down Syndrome
Down syndrome is the most common genetic disorder in the society that causes mental retardation. Today, screening tests (combined test, triple screening, ultrasonography and age) are performed for the diagnosis of down syndrome…
- Conditions
- Down Syndrome, Prenatal Stress, Cytokines
- Trial name
- NCT04293380
- Testing
- amniosyntesis
- Where
- Turkey (Türkiye)
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Karadeniz Technical University
Physical Disability, Intellectual Impairment
HIIT Versus High-Volume Training in Competitive Para Swimmers
This study compared the effects of four weeks of reduced-volume high-intensity interval training and higher-volume moderate-intensity swimming training on repeated-sprint ability, physiological responses, and body composition in…
- Conditions
- Physical Disability, Intellectual Impairment, Athletic Performance, Exercise Training
- Trial name
- NCT07862036
- Testing
- Reduced-Volume High-Intensity Interval Swimming Training, Higher-Volume Moderate-Intensity Swimming Training
- Where
- Greece
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- National and Kapodistrian University of Athens
Physical Conditioning, Human
Effect of Rhythmic Gymnastics Training in Children With Down Syndrome
Some of the clinical characteristics of people with Down syndrome (DS) are orthopedic, cardiovascular, neuromuscular, visual, cognitive and perceptual disorders, which directly affect the quality of their movements.
- Trial name
- NCT06284707
- Testing
- swimming training, rhythmic gymnastics training
- Where
- Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Castilla-La Mancha
Intellectual Disability
Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.
Each form of intellectual disability under study is a rare disease in its own right, and it is therefore difficult to study the variability of its expression.
- Trial name
- GWAS-2DI (NCT06706934)
- Where
- France
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Developmental Disability, Development Delay
Early Detection of Children With Developmental Disabilities in Assiut Governorate
The study aimed to determine the effectiveness of a designed training program for nurses toward early detection of developmental disabilities among children (0-3 years).
- Conditions
- Developmental Disability, Development Delay, Motor Delay, Down Syndrome
- Trial name
- NCT06263777
- Testing
- Nurses training program on early detection of disability
- Where
- Egypt
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Beni-Suef University
Neurodevelopmental Disorders
Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
The efficacy of clinical trials addressing behavioral issues in individuals with intellectual/developmental disabilities (IDD) has traditionally been hampered by lack of objective and sensitive measures.
- Trial name
- MOCHA (NCT03229928)
- Testing
- MOCHA
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill