Clinical trials: Intellectual Disabilities
Down Syndrome, Polyendocrinopathies, Autoimmune
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Trial name
- NCT02421276
- Testing
- Phlebotomy
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Downs Syndrome
Effect of Group-Task-Oriented Training on GMFM and ADL in Children With DS
Down syndrome, a genetic condition resulting from an additional copy of chromosome 21, manifests with distinct facial features and intellectual challenges.
- Trial name
- NCT06459440
- Testing
- Group Task oriented Training, Routine Treatment
- Where
- Pakistan
- Volunteers
- 44 people
- Sponsor
- Riphah International University
Alcohol Use, Drug Use
Effectiveness of Take it Personal!
A controlled pre-post design study on Take it Personal! has demonstrated effectiveness in reducing the frequency and severity of youth use of alcohol, cannabis or other illicit drugs.
- Conditions
- Alcohol Use, Drug Use, Mild Intellectual Disability, IQ 50-70, Borderline Intellectual Disabilities (Intelligence Quotient 70-85)
- Trial name
- NCT05843474
- Testing
- Take it Personal!
- Where
- Netherlands
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Behavioural Science Institute
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Autism Disorder, Multiple Disabilities
Impact and Determinants of Success of a Mobile Multidisciplinary Intervention System Specialized in Pain Management for Patients With Moderate to Severe Intellectual Development Disorder, Isolated or Associated With an ASD or Multiple Disability
Pain is described by patients with a Neurodevelopmental Disorder (NDD), including Autism Spectrum Disorder (ASD), Intellectual Development Disorder (IDD) or multiple disabilities, and the family as one of the main associated…
- Conditions
- Autism Disorder, Multiple Disabilities, Pain, Intellectual Developmental Disorder
- Trial name
- MoDIDol (NCT07302048)
- Testing
- MoDIDol intervention
- Where
- France
- Volunteers
- 80 people
- Sponsor
- University Hospital, Brest
Mental Retardation, Upper Extremity
Effectiveness of Video Based Games on Upper Extremity Functions in Mild Mental Retardation Diagnosed Cases
With Leap Motion Controller, virtual reality exercises have been implemented more often since 2014, and this technology has benefited more from upper extremity rehabilitation In literature, there are no publications investigating…
- Trial name
- NCT03503955
- Testing
- Leap-Motion virtual reality games, fine motor skills activities
- Where
- Turkey (Türkiye)
- Volunteers
- 27 people
- Sponsor
- Istanbul University
Prader-Willi Syndrome
Optimizing the Social Engagement System in Prader-Willi Syndrome: Insights From the Polyvagal Theory
The Polyvagal Theory focuses on how function and structure changed in the vertebrate autonomic nervous system during evolution. The theory is named for the vagus, a major cranial nerve that regulates bodily state.
- Trial name
- NCT03101826
- Testing
- Listening Project Protocol
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Indiana University
Intellectual Disabilities (F70-F79)
North Health in Intellectual Disability
Intellectual disability (ID) is a diagnosis characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills.
- Trial name
- NOHID (NCT03889002)
- Where
- Norway
- Volunteers
- 214 people, healthy volunteers welcome
- Sponsor
- University Hospital of North Norway
Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Dehydrogenase E1 Alpha Deficiency
Natural History Study of Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase (PDH) deficiency is one of the most common mitochondrial disorders. Patients with this genetic condition have difficulty utilising carbohydrates to produce energy and develop a combination of problems…
- Conditions
- Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Dehydrogenase E1 Alpha Deficiency, Pyruvate Dehydrogenase E1-Beta Deficiency, Pyruvate Dehydrogenase E2 Deficiency
- Trial name
- NCT05257005
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Cancer Prevention, Health Behavior
Program of Health Behaviour Against to Cancer (PHeBAC)
The European Code Against Cancer contains 12 recommendations to reduce the risk of cancer. It is estimated that about half of all cancers could be prevented if all recommendations are followed.
- Conditions
- Cancer Prevention, Health Behavior, Disability, Intellectual, Parents
- Trial name
- PHeBAC (NCT06371469)
- Testing
- PHeBAC, Control Group
- Where
- Turkey (Türkiye)
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Akdeniz University
Fragile X Syndrome
Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adolescent patients with FXS who have participated in the CAFQ056B2214 study, the PK study CAFQ056B2131, or another…
- Trial name
- NCT01433354
- Testing
- AFQ056
- Where
- 28 sites in United States, Australia and 11 more
- Volunteers
- 119 people
- Sponsor
- Novartis Pharmaceuticals
Williams Syndrome, Language
Phonological Constraints on Language Development in Individuals With Williams Syndrome
Williams syndrome (WS) is a neurodevelopmental disease characterized by mild to moderate intellectual disability and an extremely heterogeneous cognitive profile.
- Conditions
- Williams Syndrome, Language, Phonological Short-Term Memory, EEG-NIRS
- Trial name
- SOUNDS (NCT07285720)
- Testing
- EEG-NIRS protocol, Questionnaire
- Where
- France
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Prader-Willi Syndrome, Aggression
Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
This is a placebo-controlled clinical trial to assess whether Guanfacine Extended Release (GXR) reduces aggression and self injurious behavior in individuals with Prader Willi Syndrome (PWS).
- Conditions
- Prader-Willi Syndrome, Aggression, Self-Injurious Behavior, Pathologic Processes
- Trial name
- PWS-GXR (NCT05657860)
- Testing
- Guanfacine Extended Release
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Maimonides Medical Center
Language Disorder
Parent Child Interaction Therapy vs Conventional Parent Led Therapy in Down Syndrome
To determine the effect of Parent child interaction therapy vs Conventional Parent Led Therapy in the management of language disorders in Children with Down Syndrome
- Trial name
- NCT07128810
- Testing
- Parent Child Interaction Therapy, Conventional Parent Led Therapy
- Where
- Pakistan
- Volunteers
- 16 people
- Sponsor
- Riphah International University
Down Syndrome (Trisomy 21), Neuropsychology
Neuropsychological Evaluation in Intellectual Disability (ENDI)
The goal of this observational study is to evaluate the acceptability ofpatients with trisomy 21 (T21) to perform the full battery of ENDI neurospychological tests and each of the subsets.
- Conditions
- Down Syndrome (Trisomy 21), Neuropsychology, Cognitive Aging, Alzheimer Disease
- Trial name
- ENDI (NCT07047963)
- Testing
- ENDI (Neuropsychological Evaluation in Intellectual Disability)
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Behavior, Periodontal Diseases
Global Behavior and Periodontal Disease in Down's Syndrome Patients
This study aimed at correlating global behavior of Down's Syndrome patients to periodontal disease status.
- Trial name
- NCT02941887
- Testing
- Behavior Analysis
- Where
- Brazil
- Volunteers
- 33 people
- Sponsor
- University of Sao Paulo
Fragile X Syndrome
A Study of RO4917523 in Patients With Fragile X Syndrome
This multi-center, randomized, double-blind, placebo-controlled, parallel-group study will investigate the efficacy and safety of RO4917523 in adolescent and adult patients with fragile X syndrome.
- Trial name
- NCT01517698
- Testing
- RO4917523 0.5 mg, RO4917523 1.5 mg
- Where
- 51 sites in United States, Argentina and 8 more
- Volunteers
- 185 people
- Sponsor
- Hoffmann-La Roche
Down Syndrome (DS), Supplementation
Effects of Chronic Creatine and Beta-Hydroxy-Beta-Methylbutyrate Supplementation on Oxidative Stress, Inflammation, Muscle Strength, and Body Composition in Individuals With Down Syndrome
Purpose: This study will test whether 8 weeks of creatine and HMB supplementation can improve muscle strength, body composition, balance, and overall health in people with Down syndrome.
- Trial name
- NCT07213063
- Testing
- Nutrition education, Supplement
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Universidad de Burgos
Congenital Hypothyroidism
Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
Congenital hypothyroidism (CH) is a rare disease that affects 1 in 3500 newborn. This condition is detected consistently since the late 1970s in France, which has led to early care and a significant improvement in prognosis and…
- Trial name
- HYPOTYGEN (NCT01916018)
- Testing
- Clinical and radiologic exams and blood samples
- Where
- France
- Volunteers
- 558 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris