Clinical trials: Disabilities, Intellectual
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
Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies
Genetic Disease Gene Identification
This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips.
- Conditions
- Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia
- Trial name
- NCT00916903
- Where
- United States
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- State University of New York - Upstate Medical University
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
Down Syndrome, Alzheimer's Disease
Glucose Metabolic, Amyloid, and Tau Brain Imaging in Down Syndrome and Dementia
The purpose of this study is to develop small molecule radio-labeled probes of beta-amyloid, to be used with positron emission tomography (PET) for early detection and treatment monitoring of Alzheimer disease (AD).
- Trial name
- NCT00966017
- Where
- United States
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- National Institute on Aging (NIA)
Alzheimer Disease, Down Syndrome
Rocky Mountain Alzheimer's Disease Center Longitudinal Biomarker and Clinical Phenotyping Study
This study plans to establish a large bank of blood, cerebral spinal fluid (CSF), imaging, and clinical data. These data and samples will be used for future research into the causes of Alzheimer's disease (AD), Down Syndrome (DS)…
- Conditions
- Alzheimer Disease, Down Syndrome, Mild Cognitive Impairment
- Trial name
- NCT02612376
- Where
- United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation
Chronic Pain (back / Neck)
Impact of a Pain Neuroscience Education Program on Primary Students with and Without Intellectual Disabilities
This observational study evaluates the impact of a Pain Neuroscience Education (PNE) program on primary school students in Extremadura, Spain.
- Trial name
- NCT06664606
- Testing
- Pain Neuroscience Education Program (PNE)
- Where
- Spain
- Volunteers
- 413 people, healthy volunteers welcome
- Sponsor
- Universidad de Extremadura
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Fragile X Syndrome
A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
The objectives of this study are to determine the safety and tolerability of single oral doses of STX107 and to determine basic pharmacokinetic (PK) parameters following single oral doses of STX107 when administered via an oral…
- Trial name
- NCT00965432
- Testing
- STX107
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Seaside Therapeutics, Inc.
Williams Syndrome
Vitamin D Metabolism and the Williams Syndrome
The Williams syndrome is a disease in which supravalvular aortic stenosis, an elfin facies, mental retardation and other congenital defects are sometimes associated with abnormal vitamin D and calcium metabolism.
- Trial name
- NCT00013962
- Testing
- Vitamin D
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Intellectual Disability, Developmental Delay
Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
The study uses a randomized controlled study design of pediatric neurologists and developmental pediatricians and front-line (primary care) pediatricians to determine if use of FirstStepDx PLUS and Next StepDx PLUS are associated…
- Trial name
- NCT02414438
- Testing
- FirstStepDX PLUS and NextStepDX PLUS Webinar, FirstStepDX PLUS and NextStepDX PLUS Test Results
- Where
- United States
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- Qure Healthcare, LLC
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Down Syndrome, Physical Inactivity
GameSquad for Adults With Down Syndrome
The investigators are assessing acceptability, appropriateness, and feasibility of the adapted GameSquad-DS intervention using validated scales alongside qualitative data among young adults with Down Syndrome.
- Trial name
- NCT05473247
- Testing
- Ring-Fit Adventure Group
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Rett Syndrome
Biomarkers in Rett Syndrome
Rett syndrome (RTT) is an X-linked genetic disorder that causes severe neurological development disorder. In its classic form, it seems to affect almost exclusively females with an incidence of up to one in 10,000 females.
- Trial name
- BIRS (NCT06346444)
- Testing
- Diagnostic test and behavioral
- Where
- 4 sites in Ireland, Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Perinatal Condition, Neurodevelopmental Disorders
Perinatal and Psychological Correlates of Neurodevelopmental Disorders in Children.
The goal of this observational study is to investigate perinatal, cognitive and social-emotional correlates of neurodevelopmental disorders and educational difficulties in children and adolescents.
- Conditions
- Perinatal Condition, Neurodevelopmental Disorders, Social Functioning, Child Development
- Trial name
- NCT06215092
- Testing
- Psychological assessment
- Where
- Poland
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Bartosz M. Radtke
Williams Syndrome
Fat Distribution and Glucose Metabolism in Williams Syndrome
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and…
- Trial name
- NCT01864304
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Intellectual Disability
Handgrip Strength, Trunk Muscle Endurance, and Functional Mobility in Adolescents With Mild Intellectual Disability
This comparative, cross-sectional observational study examined handgrip strength, trunk muscle endurance, and functional mobility in adolescents aged 12-18 years with mild intellectual disability and compared their performance…
- Trial name
- NCT06934850
- Where
- Turkey (Türkiye)
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Inonu University
Healthy Volunteer, Down Syndrome
A Molecular and Functional Brain Imaging Study in Individuals With Down Syndrome and Healthy Controls Following Single Dose RG1662
This single-center, single-blind, placebo-controlled, parallel-group study with crossover component will evaluate the GABAAalpha5 receptor expression, occupancy and functional connectivity in the brains of individuals with Down…
- Trial name
- NCT01667367
- Testing
- RG1662
- Where
- United Kingdom
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Intellectual Disability, Mild, First Aid Training
How First Aid Training Helps Parents of Children With Intellectual Disabilities
itle: How First Aid Training Helps Parents of Children With Intellectual Disabilities Purpose: This study aims to find out how experiential learning-based first aid training affects the knowledge and self-sufficiency of parents…
- Trial name
- ELFAID (NCT07054619)
- Testing
- Experiential First Aid Training
- Where
- Turkey (Türkiye)
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Burdur Mehmet Akif Ersoy University