Clinical trials: Intellectual Disabilities
Mucopolysaccharidosis II, Hunter Syndrome
A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients with MPS Ⅱ
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of intracerebroventricular GC1123 in patients with MPS Ⅱ who have central nervous system involvement and are receiving…
- Trial name
- NCT05422482
- Testing
- GC1123
- Where
- 3 sites in South Korea
- Volunteers
- 12 people
- Sponsor
- GC Biopharma Corp
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
Cerebral Palsy, Neurological Conditions
Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
This is an open-label clinical research study of an oral glycopyrrolate liquid for the treatment of chronic moderate to severe drooling in patients with cerebral palsy or other neurological conditions.
- Conditions
- Cerebral Palsy, Neurological Conditions, Mental Retardation, Sialorrhea
- Trial name
- NCT00491894
- Testing
- Oral Glycopyrrolate Liquid
- Where
- 7 sites in United States
- Volunteers
- 137 people
- Sponsor
- Shionogi
Fragile X Syndrome, Disruptive Behavior
Treatment of Disruptive Behaviors in Fragile X Syndrome
Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing…
- Trial name
- NCT03510156
- Testing
- Behavior analytic treatment
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
Down Syndrome, Hemiparesis
Kinematic Analysis of Manual Dexterity
The following study aims to standardize the instrumented BBT for the objective evaluation of upper limb joint kinematics using MoCap on a population of healthy subjects between 4 and 18 years of age.
- Conditions
- Down Syndrome, Hemiparesis, Healthy Subjects
- Trial name
- SUPERFUN (NCT07875127)
- Testing
- Inertial Measurement Unit and Box and Block test
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele Roma
Down Syndrome
The Effects of Inhalational Anaesthetics in Cognitive Functions in Down Syndrome Patients
Recovery of the cognitive functions and recovery features after general anaesthesia in Down syndrome patients. A comparison of Sevoflurane and Desflurane.
- Trial name
- NCT02971254
- Testing
- Sevoflurane, Desflurane
- Where
- Greece
- Volunteers
- 39 people
- Sponsor
- Asklepieion Voulas General Hospital
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Autism, Intellectual Disability
Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability
In addition to the core symptoms, children and adolescents with Autism Spectrum Disorder (ASD) often exhibit disruptive behavior problems including irritability, tantrums, noncompliance, and aggression.
- Trial name
- NCT02914951
- Testing
- Cognitive-Behavioral Therapy, Functional magnetic resonance imaging (fMRI)
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Yale University
Danon Disease
The Natural History of Danon Disease
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene.
- Trial name
- NCT03766386
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- University of California, San Diego
Down Syndrome (Trisomy 21)
Qualitative Effects of AEF0217 in Down Syndrome People
Following the AEF0217-102 trial (NCT05748405), which investigated the effects of AEF0217 versus placebo, participants with Down syndrome and their caregivers who took part in the trial are invited to share their perceptions of…
- Trial name
- NCT07413224
- Where
- Spain
- Volunteers
- 28 people
- Sponsor
- Aelis Farma
Intellectual Disability, Intellectual Disability, Mild
Therapeutic Play in Children With Mild Intellectual Disability
The aim of this study is to determine the effectiveness of a designed therapeutic play activities program on improving motor adaptive behavior in a sample of Egyptian children with mild intellectual disabilities.
- Conditions
- Intellectual Disability, Intellectual Disability, Mild, Motor and Developmental Delay, Motor Delay
- Trial name
- NCT06735482
- Testing
- Therapeutic play program
- Where
- Egypt
- Volunteers
- 20 people
- Sponsor
- Beni-Suef University
Williams Syndrome, Cardiovascular Disease
WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
Background: Williams Syndrome (WS) is a genetic disorder. People with WS have less of a protein that allows parts of the body to stretch than other individuals.
- Conditions
- Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion
- Trial name
- NCT02692846
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Down Syndrome (DS)
The Effect of the HEP Approach in Infants With Down Syndrome
This study evaluates the effect of the HEP (Homeostasis-Enrichment-Plasticity) approach on motor and sensory development in infants with Down syndrome.
- Trial name
- HEP-DS (NCT07163780)
- Testing
- HEP Intervention, Traditional Therapy
- Where
- Turkey (Türkiye)
- Volunteers
- 26 people
- Sponsor
- Izgi Miray Demirbag
Obstructive Sleep Apnea (OSA), Orofacial Myofunctional Disorders
Oromyofunctional Therapy: a Rehabilitation Program for OSA in Children With Down Syndrome and Prader-Willi Syndrome
Obstructive sleep apnea (OSA) is a prevalent medical condition with important implications for overall health and quality of life in both children. Therefore, it is important to treat OSA early and effectively.
- Trial name
- OROFIT-P (NCT07122505)
- Testing
- Orofacial myofunctional therapy
- Where
- Belgium
- Volunteers
- 60 people
- Sponsor
- University Ghent
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, Cognitive Decline
GnRH Therapy on Cognition in Down Syndrome
Down syndrome (DS) is the most common chromosomal disorder; with the increasing life expectancy, about 80% of DS adults reach age 65 years old.
- Conditions
- Down Syndrome, Cognitive Decline, Alzheimer Disease, Early Onset, Olfaction Disorders
- Trial name
- NCT04390646
- Testing
- GnRH, gonadorelin acetate, 0.9% NaCl
- Where
- Switzerland
- Volunteers
- 56 people
- Sponsor
- Nelly Pitteloud
Intellectual Disability, Variable
A Pilot Project to Facilitate Dental Care and Reduce Barriers For Youth With Disabilities
This randomized clinical trial is an innovative pilot project to determine the acceptance and impact of telehealth visits on youth with intellectual and developmental disabilities (IDD), their caregivers, and dentists.
- Trial name
- NCT06710483
- Testing
- Pre-Dental Telehealth (PDT)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Boston University
Lesch-Nyhan Disease, Self-injurious Behavior
Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
The purpose of this research study is to gather scientific information about the effectiveness and safety of the study drug, Ecopipam (PSYRX 101), for the treatment of self-injurious behaviors when compared with the effectiveness…
- Trial name
- NCT01751802
- Testing
- Ecopipam
- Where
- 2 sites in United States, Spain
- Volunteers
- 9 people
- Sponsor
- Emalex Biosciences Inc.
Down Syndrome
Effect of Core Stability Exercises and Balance Training in Postural Control Among Down Syndrome
Children with Down syndrome often present with problems of posture \& balance and mobility. Balance training is an important component of physical activity interventions, with growing evidence that it can be beneficial for…
- Trial name
- NCT04818437
- Testing
- BALANCE TRAINING, CORE STABILITY EXERCISES
- Where
- Pakistan
- Volunteers
- 20 people
- Sponsor
- Riphah International University
Fragile X Syndrome
A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome
This randomized, double-blind, placebo-controlled, parallel-arm study will evaluate the safety and exploratory efficacy and pharmacokinetics of RO4917523 in pediatric patients with fragile X syndrome.
- Trial name
- NCT01750957
- Testing
- RO4917523
- Where
- 20 sites in United States
- Volunteers
- 47 people
- Sponsor
- Hoffmann-La Roche