Clinical trials: Disabilities, Intellectual, open to volunteers
ADNP, Helsmoortel-Van Der Aa Syndrome
ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20.
- Conditions
- ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03718936
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Down Syndrome
Physical Fitness in DS: A Comparison of Cuevas Medak and Rebound Exercises
This randomized clinical trial investigates the comparative effects of Cuevas Medak Exercises Vs Rebound Exercises on physical fitness in DS.
- Trial name
- DownSyndrome (NCT07248449)
- Testing
- Cuevas Medak Exercises
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Intellectual Disability
Development and Validation of the Observatory Battery of Common Eye Disorders for Adults With Intellectual Disability
Background: Around 15% of the global population has some form of disability. Rights to obtain proper health care is an emphasis in the United Nationals Convention on the Right of People with Disability.
- Trial name
- NCT06737627
- Testing
- no intervention
- Where
- 2 sites in Taiwan
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Down Syndrome
Nutritional Status in Children With Down Syndrome
To evaluate the nutritional status of children with Down's syndrome and to determine the prevalence of nutritional deficiencies among those children.
- Trial name
- DS (NCT06989060)
- Where
- Egypt
- Volunteers
- 75 people
- Sponsor
- Assiut University
RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design.
- Trial name
- TRANSCEND (NCT07257978)
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 40 people
- Sponsor
- Fenix Innovation Group
Obstructive Sleep Apnea
Optimizing the Management of OSA in Children With Down Syndrome
The objective of this retrospective descriptive study is to assess current practices for the screening and surgical treatment of OSA in children with Down syndrome at the Strasbourg University Hospital and to disseminate a…
- Trial name
- SAOS-21 (NCT07334444)
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Intellectual Disability, Developmental Disability
Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
People with IDD (intellectual and developmental disability) have very high rates of obesity and die prematurely from cardiometabolic disease.
- Conditions
- Intellectual Disability, Developmental Disability, Obesity
- Trial name
- METIDD (NCT05744479)
- Testing
- Metformin, Lifestyle Intervention
- Where
- Canada
- Volunteers
- 100 people
- Sponsor
- Centre for Addiction and Mental Health
Fragile X Syndrome
Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome
This study focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- CANAX (NCT06261502)
- Testing
- CBD Oral Solution
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- Université de Sherbrooke
Intellectual Disability, Attention Deficit Hyperactivity Disorder
Evaluation of a Home-based Parenting Support Program: Parenting Young Children
Background: Parents with intellectual and developmental disabilities (IDDs) have a tendency to provide insufficient caregiving and often need parenting support to prevent neglect and child removal.
- Conditions
- Intellectual Disability, Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder
- Trial name
- PYC (NCT05935722)
- Testing
- Parenting Young Children, Treatment as Usual
- Where
- 5 sites in Sweden
- Volunteers
- 60 people
- Sponsor
- Örebro University, Sweden
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Down Syndrome
How Simplified Language Affects Comprehension and Learning in Young Children With Down Syndrome
The long-term study goal is to experimentally evaluate the components (and likely active ingredients) of early language interventions for young children with Down syndrome (DS).
- Trial name
- NCT06951516
- Testing
- Linguistic simplification
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Michigan State University
Down Syndrome
Home and Community Use of a Suspension Walker in Pre-Walking Infants With Down Syndrome
The goal of this clinical trial is to learn if pre-walking infants with Down syndrome can use a suspension walker in their home and community environments.
- Trial name
- NCT07631130
- Testing
- suspension walker
- Volunteers
- 12 people
- Sponsor
- University of Southern California
Down Syndrome, Autonomic Dysfunction
Exploring Sympathetic Nervous System Function in Individuals With Down Syndrome
Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with widespread organ dysfunction, including abnormalities in the autonomic nervous system (ANS).
- Trial name
- DIVE (NCT07238465)
- Testing
- Cold Stress, Maximal Dynamic Exercise, Isometric Handgrip Exercise with Post-Exercise Muscle Ischemia
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Glycogen Storage Disease, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Intellectual Disabilities, Depression
Behavioural Activation and Severe Learning Disabilities
Research shows that people with severe learning disabilities get depressed at least as often as the wider population. Psychological therapies are recommended to treat depression, and some of these have been adapted for those…
- Trial name
- NCT06851741
- Testing
- Behavioural Activation for depression (BeatIt2)
- Volunteers
- 50 people
- Sponsor
- NHS Greater Glasgow and Clyde
Danon Disease
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (rAAV9) vector containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B)…
- Trial name
- NCT06092034
- Testing
- RP-A501
- Where
- 6 sites in United States, Germany and 2 more
- Volunteers
- 18 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Prader-Willi Syndrome
Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion Dysregulation
The goal of this study is to help teens with Prader-Willi Syndrome (PWS) and their families learn practical strategies for managing issues like irritability, meltdowns, and anxiety.
- Trial name
- RT-PWS (NCT07607730)
- Testing
- Regulating Together group therapy
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Mercy Hospital Kansas City
MECP2 Duplication Syndrome
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS).
- Trial name
- HERO (NCT06615206)
- Testing
- HG204
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Down Syndrome-Associated Alzheimer's Disease (DS-AD)
A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD)
The purpose of the study is to evaluate the effect of mivelsiran in adult participants with early-stage DS-AD and to characterize the safety, tolerability, and pharmacodynamics (PD) of mivelsiran.
- Trial name
- NCT07636811
- Testing
- Mivelsiran
- Where
- 10 sites in United States, Spain
- Volunteers
- 58 people
- Sponsor
- Alnylam Pharmaceuticals
Neurodevelopmental Disorders, Intellectual Developmental Disorder
High Depth Exome Sequencing on DNA From a Salivary Sample by Mouth Smear.
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups.
- Trial name
- SEPASA (NCT07492199)
- Testing
- genetic
- Volunteers
- 50 people
- Sponsor
- Centre Hospitalier Universitaire de Besancon