Clinical trials: Disability, Intellectual
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT04539340
- Testing
- GNR-055
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Williams Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Aneuploidy, Trisomy 21
Non-Invasive Chromosomal Evaluation of Trisomy Study
This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.
- Conditions
- Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- NICHE (NCT02201862)
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
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)
Depressive Symptoms
Implementation of Bright Light Therapy ID
Many adults with intellectual disabilities (ID) have depressive symptoms, which negatively impact their quality of life. A lot of of the non-medicinal forms of treatment are not or hardly suitable for people with ID.
- Trial name
- NCT06215235
- Testing
- Bright light therapy
- Where
- Netherlands
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Erasmus Medical Center
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.
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
Psychological Resilience, Family Functioning
Does Group Therapy Improve Resilience and Family Functioning Among Mothers of Children With Intellectual Disabilities?
Abstract This study examined the effectiveness of a seven-week structured group therapy intervention designed to enhance the psychological resilience and family functioning of mothers of children with intellectual disabilities.
- Trial name
- NCT07738289
- Testing
- Structured Group Therapy
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Sinop University
Autism
MRI Study of Cerebral Blood Flow in Development Disorders in Children
The purpose of this study is reproduce the individual detection results by PET with Arterial Spin Labeling (ASL) MRI, to establish a biomarker useful in autism diagnosis.
- Trial name
- IRM-Aut (NCT02165410)
- Testing
- ASL-MRI, Diffusion tensor imaging (diffusion MRI), Resting state MRI
- Where
- France
- Volunteers
- 115 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Posture, Balance
Training Balance Among People With Neurodevelopmental Disabilities
This study is a case control pilot study to investigate the impact of a short-term intervention on training anticipatory postural adjustments in a population of people with neurodevelopmental disabilities.
- Conditions
- Posture, Balance, Cerebral Palsy, Autism
- Trial name
- TAPAS (NCT04293120)
- Testing
- Training with weighted ball
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- University of Hartford
Intellectual Disability
Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability
Introduction : Intellectual Disability (ID) is the most common cause of referral in the pediatric genetic centers and is characterized by an extreme genetic heterogeneity corresponding to a myriad of rare diseases that…
- Trial name
- DEFIDIAG (NCT04154891)
- Testing
- Whole Genome Sequencing
- Where
- 14 sites in France
- Volunteers
- 3,825 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
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
Stress
Parent Supports Intervention Project
The purpose of this study is to evaluate the impact of two community based interventions for parents of adults with intellectual or developmental disabilities (IDD) who are requesting services.
- Trial name
- NCT01981070
- Testing
- Mindfulness Intervention for Parents, Support and Information for Parents
- Where
- Canada
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Centre for Addiction and Mental Health
Down Syndrome
Shared Book Reading to Promote Mental Well-being Among Young People with and Without Down's Syndrome
Abstract Background: With the progress of society and the deepening of people's understanding of Down syndrome (DS), research has shifted focus on how to improve the quality of life and education for young people with DS.
- Trial name
- NCT06813625
- Testing
- Shared book reading intervention
- Where
- China
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Macau
Down Syndrome
Digital Dysmorphology Project
In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD).
- Trial name
- NCT02651493
- Testing
- photographs
- Where
- United States
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Kevin Cleary
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
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory
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
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT05957549
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati