Clinical trials: Disabilities, Intellectual
Children, Neurologic Disorder
Psychometric Properties of the Turkish Version of the Modified Mini Mental State Examination
One of the most commonly used screening tests for the mental status of adults is the Standardized Mini Mental State Examination (MMSE).
- Conditions
- Children, Neurologic Disorder, Cerebral Palsy, Down Syndrome
- Trial name
- NCT06865248
- Where
- Cyprus
- Volunteers
- 397 people, healthy volunteers welcome
- Sponsor
- Eastern Mediterranean University
MPS II, Hunter Syndrome (MPS II)
An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)
The objective of this study is to assess the long-term safety and efficacy of Hunterase for approximately 1 year in subjects who completed the end of study (EOS) visit (Visit 54) tests in the Phase 3 Hunterase study and patients…
- Conditions
- MPS II, Hunter Syndrome (MPS II), Hunter Syndrome, Hunterase
- Trial name
- NCT07344376
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- GC Biopharma Corp
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
Down Syndrome
Liq-NOL Efficacy in Pediatric Patients With Down Syndrome
The purpose of this study is to measure the effects of LiQ-NOL supplementation on language production using the Clinical Evaluation of Language Fundamentals test, language sampling using the mean length of utterance test, and…
- Trial name
- NCT00891917
- Testing
- Ubiquinol-10 Syrup
- Where
- United States
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Down Syndrome, Cardiovascular Risk Factor
Vascular Health and Risk Factors in Children With Down Syndrome
This is a prospective, multicenter, cross-sectional study to evaluate prevalence of vascular risk factors in children with Down Syndrome and to determine the association between vascular disease risk factors and objective markers…
- Conditions
- Down Syndrome, Cardiovascular Risk Factor, Atherosclerosis
- Trial name
- NCT04735874
- Testing
- Evaluate vascular disease risk factors in children with Down Syndrome, Determine the associations between cardiovascular disease risk factors and markers of early atherosclerosis in children with Down Syndrome
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- University of Utah
Rett Syndrome
To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome
Primary Objective • To investigate the efficacy of treatment with oral Bionetide versus placebo in girls and women with Rett syndrome Key Secondary Objective To investigate the efficacy of treatment with oral Bionetide versus…
- Trial name
- NCT06840496
- Testing
- Bionetide
- Where
- 18 sites in United States, Australia
- Volunteers
- 210 people
- Sponsor
- Biomed Industries, Inc.
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Down Syndrome
Functional Communicative Profile of Children With Down Syndrome
The aim of this study was to verify the use of communicative functions by children with DS in two interaction conditions: interaction with therapist and interaction with parent.
- Trial name
- NCT00844259
- Where
- Brazil
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Patients With Intellectual Disabilities Without an Obvious Clinical Diagnosis, Patients With Normal Array CGH and Previous Negative Genetic Investigations (WES-solo or WES-trio)
Contribution of High Throughput RNA Sequencing Combined With Sequencing of Whole Genomes in the Diagnosis of Intellectual Disability
Intellectual disability (ID) is a clinically and genetically heterogeneous condition that often results in a diagnostic odyssey.
- Trial name
- DI-WA (NCT03857997)
- Testing
- Patient blood sampling, Parents blood sampling
- Where
- France
- Volunteers
- 62 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Rett Syndrome
Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
This is a single-center, exploratory, open-label study in 10 girls diagnosed with Rett Syndrome. The study will consist of the following 4 parts: Screening/Baseline run-in, Titration/Dose-Setting, Treatment, and Washout/Follow-up.
- Trial name
- UX007 (NCT03059160)
- Testing
- Tridecanoic Acid
- Volunteers
- 10 people
- Sponsor
- Sheba Medical Center
Rett Syndrome
Technology-supported Motor Rehabilitation for People With Rett Syndrome
This study focuses on improving purposeful arm use while simultaneously reducing engagement in stereotypies. It is typically expected that the training period for this study will last about 6 months.
- Trial name
- TeMoRett (NCT07418905)
- Testing
- computer gaming
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Georgetown University
Mucopolysaccharidosis II
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type II
MPS II is a genetic disorder that affects boys. Boys with MPS II are missing a working enzyme known as iduronate-2-sulfatase (IDS) which is needed to break down long sugar chains in the body.
- Trial name
- NCT05665166
- Testing
- Autologous CD34+ HSCs transduced ex vivo with CD11B LV encoding human IDS tagged with ApoEII
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- University of Manchester
Prader-Willi Syndrome
Home-based SSP on Individuals With PWS
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
- NCT03871751
- Testing
- Safe and Sound Protocol
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Indiana University
Down Syndrome
Transcranial Photobiomodulation With Near-Infrared Light for Language in Individuals With Down Syndrome
The aim of this study is to better understand the effects of transcranial photobiomodulation (tPBM) on neural oscillations of individuals diagnosed with Down syndrome.
- Trial name
- TransPhoM-DS (NCT04668001)
- Testing
- Near-Infrared Transcranial Photobiomodulation
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Massachusetts General Hospital
Intellectual Disabilities (F70-F79), Autism
Optimizing Dimensions of Reinforcement
This study is designed to better understand how certain features of reinforcement affect learning and motivation in individuals with intellectual and developmental disabilities (IDD).
- Trial name
- NCT07137273
- Testing
- Operant Conditioning Tasks with Reinforcement Manipulations
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- Auburn University
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, Intellectual Disability
Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin
Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different…
- Trial name
- BioJeL (NCT05767203)
- Testing
- Biological samplings
- Where
- France
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Institut Jerome Lejeune
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Mental Retardation, Syndromic Obesity
Microarray Analysis in Syndromic Obesity
Comparative genomic hybridization (CGH) array technology has been used in numerous studies on mental retardation, and few chromosomal abnormalities have been identified in patients.
- Trial name
- REMOB (NCT01043198)
- Testing
- Clinical examination and blood sampling for biological and genetic analysis
- Where
- 6 sites in France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Bordeaux
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.