Clinical trials: Disabilities, Intellectual
Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome
Rare Diseases Clinical Research Network: Neurophysiological Correlates
The overall purpose of this project is to advance understanding of the neurophysiological features of Rett syndrome (RTT), MECP2 Duplication (MECP2 Dup) and RTT-related disorders (CDKL5, FOXG1) to gain insight into disease…
- Conditions
- Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome, Rett-related Disorders
- Trial name
- NCT03077308
- Testing
- Auditory and Visual Event-related Potentials and EEG
- Where
- 5 sites in United States
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
X-linked Adrenoleukodystrophy
Registry of X-linked Adrenoleukodystrophy
This study is a observational study conducted through recruiting X-linked adrenoleukodystrophy (X-ALD) patients, to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients, and to provide a…
- Trial name
- NCT05939232
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Beijing Tiantan Hospital
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
Leukemia, Myeloid, Acute, Leukemia, B-cell
Precision Exercise in Children With Malignant Hemopathies
In the early years of life and during adolescence, physical activity is crucial for good development of motor skills. It is even more so for those children and young people who are forced to undergo anti-cancer therapies and…
- Conditions
- Leukemia, Myeloid, Acute, Leukemia, B-cell, Leukemia, T Cell, Lymphoma, Hodgkin
- Trial name
- SportTherapy (NCT04090268)
- Testing
- Sport Therapy
- Where
- Italy
- Volunteers
- 380 people, healthy volunteers welcome
- Sponsor
- University of Milano Bicocca
Velocardiofacial Syndrome, Williams Syndrome
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to…
- Conditions
- Velocardiofacial Syndrome, Williams Syndrome, Fragile X Syndrome
- Trial name
- VCFS (NCT00768820)
- Testing
- methylphenidate, fluoxetin, risperidone
- Where
- Israel
- Volunteers
- 400 people
- Sponsor
- The Chaim Sheba Medical Center
Rett Syndrome
Rett REVOLUTION Trial: An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Rett Syndrome
The RETT REVOLUTION trial is a placebo-controlled, single-blinded, exploratory study with patients serving as their own control ("N of 1" trial design) where the safety and efficacy of vorinostat in the treatment of Rett syndrome…
- Trial name
- NCT07150013
- Testing
- Vorinostat (SAHA)
- Where
- Colombia
- Volunteers
- 15 people
- Sponsor
- Unravel Biosciences, Inc.
Fragile X Syndrome
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
The study objective is to explore the efficacy, safety and tolerability of STX209 for treatment of irritability in subjects with FSX.
- Trial name
- NCT00788073
- Testing
- STX209
- Where
- 12 sites in United States
- Volunteers
- 63 people
- Sponsor
- Seaside Therapeutics, Inc.
MPS II, Mucopolysaccharidosis II
MPS II Immunophenotyping
The purpose of this study is to investigate how participant's body's immune system responds to idursulfase, an enzyme replacement therapy (ERT) and find out which types of immune cells are involved in causing untoward responses…
- Conditions
- MPS II, Mucopolysaccharidosis II, Hunter Syndrome
- Trial name
- NCT04976231
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Duke University
Down Syndrome
Oral Language in Children With Down Syndrome
The objective of this research is to verify the language of children with Down syndrome concerning lexical, syntactic and semantic aspects using MLU.
- Trial name
- NCT00952354
- Where
- Brazil
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Intellectual Disability
Support Staff-client Interactions With Augmentative and Alternative Communication
This exploratory and observational study focuses on adults with an intellectual disability (ID) and their support workers. Two groups of clients are observed: clients using Key Word Signing, and clients using aided Augmentative…
- Trial name
- NCT02099773
- Where
- 3 sites in Belgium
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
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
Emotional Adjustment, Intellectual Disability
The Effects of Therapeutic Recreation Activities on Emotional Adjustment of Individuals With Intellectual Disabilities
The aim of this study was to determine the effect of Therapeutic Recreation Activities on Emotional Adjustment of Adolescents With Intellactual Disabilities.
- Trial name
- NCT04102683
- Testing
- Therapeutic recreation activity program
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Selcuk University
X-linked Adrenoleukodystrophy
Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
X-linked adrenoleukodystrophy (ALD) is a genetic disorder affecting the brain and adrenal glands. Approximately one third of boys who are at risk will develop cerebral disease.
- Trial name
- NCT02233257
- Testing
- Lorenzo's Oil
- Where
- United States
- Sponsor
- University of Minnesota
Intellectual Disability
Improving the Health of Parents and Their Adolescent and Transition-age Youth With Intellectual and Developmental Disabilities
This study will determine the comparative effectiveness of Go Act, a tailored advocacy curriculum versus Peer parent-directed peer learning for increasing parent activation for parents of youth with intellectual and developmental…
- Trial name
- NCT05986305
- Testing
- Go Act, Peer
- Where
- 2 sites in United States
- Volunteers
- 406 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Lesch-Nyhan Syndrome
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism.
- Trial name
- NCT05548751
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people
- Sponsor
- Uskudar University
Down Syndrome
Effects of (tDCS) Combined With Virtual Reality Versus CPT on Brain, Cognitive, and GMS in Children With DS.
This randomized controlled trial aims to compare the effects of transcranial direct current stimulation (tDCS) combined with virtual reality-based training versus conventional physical therapy on brain activity, cognitive…
- Trial name
- NCT07385066
- Testing
- Conventional Physical Therapy, Experimental group (tDCS + Virtual Reality)
- Where
- Pakistan
- Volunteers
- 30 people
- Sponsor
- Superior University
Down Syndrome
Effects of Bean Bag Tossing Game on Balance and Gait in Children With Down Syndrome.
The research design will be a randomized clinical trial. The study will recruit 36 children with spastic cerebral palsy and toe walking that fall within the ages of 5-17 years who have a defined balance deficit.
- Trial name
- NCT07578922
- Testing
- Bean Bag Tossing Game on Wedge, Bean Bag Tossing Game on Balance Board
- Where
- Pakistan
- Volunteers
- 38 people
- Sponsor
- Riphah International University
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Anophthalmos
Molecular Analysis of Microphthalmia/Anophthalmia
This study will try to learn more about the genetic cause and symptoms of microphthalmia (small eyes) or anophthalmia (absence of one or both eyes).
- Trial name
- NCT00011843
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorder
Better Delineation of CDK13 Related Phenotype and Epigenetic Signature.
CDK13 related disorder is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and malformation syndrome.
- Trial name
- CDK13 (NCT04382573)
- Testing
- Epigenetic signatures
- Where
- France
- Volunteers
- 100 people
- Sponsor
- University Hospital, Montpellier