Clinical trials: Intellectual Developmental Disorder
Hereditary Spastic Paraplegia, Adrenomyeloneuropathy
Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
Hereditary spastic paraplegia (HSP) is the group of inherited disorders, characterized by progressive gait disturbance. There is no established therapy. Adrenoleukodystrophy (AMN) is an x-linked hereditary disease.
- Trial name
- NCT03627416
- Testing
- rTMS
- Where
- Poland
- Volunteers
- 15 people
- Sponsor
- Jakub Antczak
Down Syndrome, Fetal Aneuploidy
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Trial name
- NCT01555346
- Where
- 29 sites in United States, Canada
- Volunteers
- 3,062 people
- Sponsor
- Sequenom, Inc.
Adrenoleukodystrophy
Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the efficacy of interferon beta and thalidomide in male patients with adrenoleukodystrophy who show evidence of brain inflammatory response and are receiving concurrent glyceryl trierucate and glyceryl…
- Trial name
- NCT00004450
- Testing
- glyceryl trierucate, glyceryl trioleate, interferon beta
- Volunteers
- 60 people
- Sponsor
- FDA Office of Orphan Products Development
Down Syndrome
Correlations Phenotype / Genotype in Down Syndrome
The purpose of this study is to correlate phenotype and genotype of Down syndrome patients in order to identify the biochemical reactions involved in their mental retardation and their other phenotypic characteristics.
- Trial name
- INTREPID (NCT01034280)
- Where
- France
- Volunteers
- 524 people
- Sponsor
- Institut Jerome Lejeune
Hypotonia, Muscle, Obstructive Sleep Apnea
Long-term Evaluation of Nasopharyngeal Airway in Hypotonia
This research is studying the long term use of a nasal airway device (self-supporting nasopharyngeal airway; "ssNPA") in children with hypotonic upper airway obstruction to learn about its effectiveness and tolerability as a…
- Conditions
- Hypotonia, Muscle, Obstructive Sleep Apnea, Nasal Airway Obstruction
- Trial name
- NCT06614582
- Testing
- Self-Supporting Nasopharyngeal Airway (ssNPA)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Michigan
Intellectual Disability, Developmental Disability
Research Engagement With People With Intellectual and Developmental Disabilities
The objectives of this project are to to build sustainable regional communities of Intellectual or Developmental Disabilities (IDD) stakeholders to provide ongoing input to research priorities, methodological processes, and…
- Conditions
- Intellectual Disability, Developmental Disability, Chronic Conditions, Multiple
- Trial name
- PCORI (NCT04182347)
- Testing
- Health Research ToolKit Development
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Sleep Apnea, Obstructive, Down Syndrome
A Pilot Study to Evaluate the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea
Obstructive sleep apnea (OSA) affects up to 1% of the general pediatric population and is associated with adverse behavior and quality of life, as well as long term cardiopulmonary system complications.
- Trial name
- NCT02344108
- Testing
- Inspire® Upper Airway Simulation System (Model 3028 IPG )
- Where
- 5 sites in United States
- Volunteers
- 42 people
- Sponsor
- Christopher Hartnick, M.D.
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, 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.
Williams Syndrome
Clemastine Treatment in Individuals With Williams Syndrome
This study explores the neurobiological etiology of Williams syndrome and potential therapeutic targets for associated social, motor, and cognitive abnormalities.
- Trial name
- NCT06087757
- Testing
- Open Label Clemastine with a blinded randomize withdrawal
- Where
- 2 sites in Israel
- Volunteers
- 30 people
- Sponsor
- Sheba Medical Center
Down Syndrome
Aerobic Exercise With and Without Low Calorie Diet on Adiposity and BMI of Down Syndrome
Down syndrome (DS) is caused by trisomy 21, or the presence of an extra copy of chromosome 21. A calibrated weight scale is used to measure participants' weight accurately.
- Trial name
- NCT06943170
- Testing
- Aerobic Exercise and Low Calorie Diet
- Where
- Pakistan
- Volunteers
- 22 people
- Sponsor
- Riphah International University
X-linked Adrenoleukodystrophy
Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
The purpose is to see how X-linked adrenoleukodystrophy (X-ALD) is associated with strength and sensation using MRI, in women with X-ALD.
- Trial name
- NCT01594853
- Testing
- exercise training
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sjogren-Larsson Syndrome (SLS)
Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
Sjogren-Larsson syndrome (SLS) is a rare genetic disease in which patients typically exhibit ichthyosis (dry, scaly skin), intellectual disability, spasticity, seizures and a distinctive maculopathy.
- Trial name
- SLS (NCT01971957)
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- University of Nebraska
Intellectual Disability, Developmental Disability
Written Language Intervention for Adults With Intellectual and Developmental Disabilities
The purpose of this study is to evaluate the effects of a written language intervention using functional texts for young adults with intellectual and developmental disabilities.
- Trial name
- NCT05851937
- Testing
- Written language intervention
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Baylor University
Down Syndrome
Action Observation Therapy on Balance in Children With Down Syndrome
Down syndrome is a condition in which a child is born with an extra copy of their 21st chromosome hence its other name is trisomy 21.
- Trial name
- NCT06198075
- Testing
- Control Group, Experimental Group
- Where
- Pakistan
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Down Syndrome
Assessing the Feasibility of the Use of Visual Aids in Patient Education in Adults With Down Syndrome (DS)
Purpose: To assess the feasibility of using videos depicting people with DS to teach other adults with DS to perform healthy behaviors.
- Trial name
- NCT02895802
- Testing
- Verbal instructions with picture diagram, Verbal instructions with video of ADSC, verbal instructions w. video of w/o DS
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Alzheimer's Disease, Down Syndrome
Multicenter Vitamin E Trial in Aging Persons With Down Syndrome
The purpose of this study is to determine the safety and effectiveness of 2,000 international units of Vitamin E (alpha tocopherol)on cognitive function of aging persons with Down syndrome.
- Trial name
- NCT01594346
- Testing
- Alpha-Tocopherol, Sugar Pill
- Volunteers
- 349 people
- Sponsor
- New York State Institute for Basic Research
Autism Spectrum Disorder, Down Syndrome
Video Based Breathing Exercise Rehabilitation
The aim of the study was to investigate the effect of video game-based lung volume increasing training on respiratory mechanics in children with developmental delays.
- Trial name
- NCT06125990
- Testing
- Experimental: Study Group (SGr)
- Where
- Turkey (Türkiye)
- Volunteers
- 18 people
- Sponsor
- Saglik Bilimleri Universitesi
Trisomy 21, Trisomy 18
Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood
Each year, 450,000 Canadian women become pregnant and, as a result of their participation in prenatal screening for Down syndrome, approximately 10,000 of them will have an amniocentesis (i.e.
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- PEGASUS (NCT01925742)
- Testing
- Integrated prenatal screening for Down's syndrome, Serum QUAD Assay for aneuploidy screening, Semiconductor MPSS NIPT assay using ccfDNA in maternal blood
- Where
- 5 sites in Canada
- Volunteers
- 3,819 people, healthy volunteers welcome
- Sponsor
- CHU de Quebec-Universite Laval
Behavior Disturbance, Muscle Hypotonia
Effect of Massage Therapy in a Multisensory Environment for Intellectual Disabilities
The aim of this study is to evaluate the effectiveness of multisensory environment (MSE) and/or massage therapy (MT) in residents with severe and profound intellectual disabilities (ID) who received massage therapy in MSE…
- Trial name
- MT-MSE (NCT02120820)
- Testing
- Multisensory environment (MSE), Massage therapy (MT), Control group
- Where
- Hong Kong
- Volunteers
- 240 people
- Sponsor
- The Hong Kong Polytechnic University