Clinical trials: Intellectual Disabilities
Intellectual Developmental Disorder, Malformations
The Belgian Genome Resource to Resolve Rare Diseases
Whole-exome (WES) or whole-genome sequencing (WGS) are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of WGS continues to be debated.
- Conditions
- Intellectual Developmental Disorder, Malformations, Dysmorphia, Developmental Delay (Disorder)
- Trial name
- BeSolveRD (NCT07051213)
- Testing
- Whole exome sequencing, Whole genome Sequencing
- Where
- Belgium
- Volunteers
- 567 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
MDS, Anemia, Aplastic
Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells
The main purpose of this investigational (not approved by the FDA) Phase I research is to test whether transplantation of umbilical cord blood cells can be safely supplemented with a transfusion of a portion of these cells that…
- Conditions
- MDS, Anemia, Aplastic, Inborn Errors of Metabolism, Congenital Marrow Failure
- Trial name
- NCT00692926
- Testing
- ALDHbr Umbilical Cord Blood Cells
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Joanne Kurtzberg, MD
Severe Intellectual Disability
Gross Motor Skills Predict Adaptive Behavior in Institutionalized Children With Severe Intellectual Disability: A Cross-Sectional Study
This study examines whether gross motor skills are linked to everyday functioning (adaptive behavior) in children with severe intellectual disability (ID) living in social welfare institutions.
- Trial name
- TGMD-ADQ (NCT07358143)
- Testing
- Test of Gross Motor Development-Second Edition (TGMD-2) Assessment, Adaptive Behavior Questionnaire for Children (ADQ) Assessment
- Where
- China
- Volunteers
- 227 people
- Sponsor
- Xili Wen
Fragile X Syndrome
An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome
This is a 4-year, open-label extension (OLE) study for subjects completing one of two double-blind clinical trials with BPN14770, Study BPN14770-CNS-301 (in adult males) and Study BPN14770-CNS-204 (in adolescent males).
- Trial name
- NCT05367960
- Testing
- Zatolmilast/ BPN14770
- Where
- 17 sites in United States
- Volunteers
- 314 people
- Sponsor
- Tetra Discovery Partners
Obesity, Prader Willi Syndrome
Macronutrient Regulation of Ghrelin and Peptide YY
The hyperghrelinemia of children with PWS provides a unique model by which to explore the hormonal and metabolic effects of orexigenic hormones in normal and pathologic conditions.
- Trial name
- NCT02464514
- Testing
- High carbohydrate meal, High fat meal
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Duke University
Problem Behavior, Self-injury
Resurgence as Choice: Basic and Clinical Studies
Background: Functional communication training (FCT) is a commonly used intervention for teaching appropriate communication skills to children with intellectual disabilities who exhibit severe destructive behavior.
- Conditions
- Problem Behavior, Self-injury, Communication
- Trial name
- NCT03423940
- Testing
- Functional communication training
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Rutgers, The State University of New Jersey
Cerebral Adrenoleukodystrophy (CALD)
A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel
The main aim of this study is to assess and describe the safety outcomes, including newly diagnosed malignancies, of patients with CALD treated with eli-cel in the post-marketing setting (tradename Skysona) and to describe major…
- Trial name
- Stargazer (NCT06224413)
- Testing
- No Intervention
- Where
- 3 sites in United States
- Volunteers
- 120 people
- Sponsor
- Genetix Biotherapeutics Inc.
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Congenital Disorders of Glycosylation
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Background: Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly.
- Trial name
- NCT02089789
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Respiratory Syncytial Virus Infection
Synagis® Liquid 50mg, 100mg for Intramuscular Injection Special Investigation in Immunocompromised Children With Synagis®
This post marketing observational study (PMOS) was conducted in Japan during the 2013-2014 and 2014-2015 Respiratory Syncytial Virus (RSV) seasons to assess the safety and effectiveness of palivizumab for the prevention of…
- Trial name
- NCT02016690
- Volunteers
- 312 people
- Sponsor
- AbbVie
Prader-Willi Syndrome
The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics
Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients.
- Trial name
- NCT05791604
- Testing
- probiotics including B. lactis B420, B. lactis HN019, B. animalis Bb-12, L. rhamnosus GG, Prebiotics with galactomannan and oligofructose
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Fudan University
Fragile X Syndrome
An Open-Label Trial of Donepezil in Fragile X Syndrome
Fragile X syndrome is the most common known inherited cause of neurodevelopmental disability. Functional magnetic resonance imaging (fMRI) studies from our laboratory indicate that specific brain regions using the neurochemical…
- Trial name
- NCT00220584
- Testing
- donepezil
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Stanford University
Autism Spectrum Disorder, Fragile X Syndrome
Speech-in-noise Perception in Autism and Fragile X
The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact.
- Trial name
- NCT06088589
- Testing
- Mismatch negativity
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Intellectual Disability, Autism Spectrum Disorder
Harnessing Communication Preferences
The goal of this clinical trial is to evaluate how preference for communication approach (e.g., using a touch talker versus picture cards) impacts treatment maintenance in the context of treatment to reduce challenging behavior…
- Conditions
- Intellectual Disability, Autism Spectrum Disorder, Self-Injurious Behavior, Communication Disabilities
- Trial name
- NCT07278544
- Testing
- PrefFCT, NonPrefFCT
- Where
- 2 sites in United States
- Volunteers
- 60 people
- Sponsor
- Joel E. Ringdahl
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
Down Syndrome, Cervical Spine Instability in Down Syndrome
Cervical Spine Abnormalities in Down Syndrome
The study aims to determine the prevalence,clinical presentations and radiographic cervical spine abnormalities associated Down syndrome in children at sohag university hospital
- Trial name
- NCT07260136
- Where
- Egypt
- Volunteers
- 50 people
- Sponsor
- Sohag University
Prader-Willi Syndrome
An Open-Label Study of Oral NNZ-2591 in Prader-Willi Syndrome (PWS-001)
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Prader-Willi Syndrome.
- Trial name
- PWS-001 (NCT05879614)
- Testing
- NNZ-2591
- Where
- 4 sites in United States
- Sponsor
- Neuren Pharmaceuticals Limited
Covid19
Testing for COVID-19 in High Risk Children With Intellectual and Developmental Disabilities (COV-IDD)
The purpose of this study is to understand how to prevent COVID-19 spread in a school like the Mary Cariola Center (MCC) in Rochester, NY by answering questions like these: how do activities in the school alter chances of…
- Trial name
- NCT04887129
- Testing
- COVID-19 RT-PCR test, COVID-19 Vaccine Education Campaign
- Where
- United States
- Volunteers
- 392 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Intellectual Disability, Perceptual Disorders
Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
The purpose of this study is to determine the relationships between sedative exposure during pediatric critical illness and long-term neurocognitive outcomes.
- Conditions
- Intellectual Disability, Perceptual Disorders, Memory Disorders
- Trial name
- RESTORE-cog (NCT02225041)
- Where
- 31 sites in United States
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Rett Syndrome
Functional Abilities in Rett Syndrome
The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).
- Trial name
- NCT00630422
- Where
- Brazil
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Faculdades Metropolitanas Unidas