Clinical trials: Disabilities, Intellectual
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
Intellectual Disabilities (F70-F79)
North Health in Intellectual Disability
Intellectual disability (ID) is a diagnosis characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills.
- Trial name
- NOHID (NCT03889002)
- Where
- Norway
- Volunteers
- 214 people, healthy volunteers welcome
- Sponsor
- University Hospital of North Norway
Prader Willi Syndrome, Childhood Obesity
Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study
Compared to other children, those with disability have additional challenges to being physically active. Prader-Willi Syndrome (PWS) is a genetic form of childhood obesity that is characterized by hypotonia, growth hormone…
- Trial name
- APAH (NCT02058342)
- Testing
- Active Play at Home
- Where
- 2 sites in United States
- Volunteers
- 115 people
- Sponsor
- California State University, Fullerton
Obstructive Apnea
Comparison of a Demand Oxygen Delivery
Conducting a randomized control trial of oxygen in children with Down syndrome to treat moderate to severe obstructive sleep apnea.
- Trial name
- DOSA (NCT06609694)
- Testing
- Portable oxygen concentrator Inogen G5 model
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Introduction: Williams-Beuren syndrome is a rare genetic disorder caused by a 7q11.23 microdeletion. The phenotype associates vasculopathy (arterial stenosis, hypertension), dimorphism and intellectual disability.
- Conditions
- Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome, Vasculopathy
- Trial name
- ELAST7 (NCT04051086)
- Testing
- Physical examination and Urine and blood samples, Urine and blood samples
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Rett Syndrome
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome. II.
- Trial name
- NCT00004773
- Volunteers
- 95 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder
Pai.ACT - An Artificial Intelligence Driven Chatbot Assisted ACT
Limited psychological support for parents of children with special needs in Hong Kong can profoundly impact the child rehabilitation process and the well-being of parent-child dyads.
- Conditions
- Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder, Neurodevelopmental Disorders, Intellectual Disability
- Trial name
- NCT06086951
- Testing
- Pai.ACT Group, Control Group
- Where
- 2 sites in Hong Kong
- Volunteers
- 60 people
- Sponsor
- Chinese University of Hong Kong
Prader-Willi Syndrome, Hypothalamic Obesity
Tirzepatide in PWS, HO and GNSO
This research study is comparing the effectiveness of a weight loss medication called Tirzepatide in young adults with Prader-Willi Syndrome and/or hypothalamic obesity, as compared to young adults with obesity that is unrelated…
- Conditions
- Prader-Willi Syndrome, Hypothalamic Obesity, Obesity/Therapy
- Trial name
- NCT06901245
- Testing
- Tirzepatide
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- Grace Kim
Down Syndrome, Edwards Syndrome
Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Trial name
- NCT02226315
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sequenom, Inc.
Prader-Willi Syndrome
Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome
This is a single-center, open-label, single-arm study with a double-blind, placebo-controlled, randomized withdrawal extension. Patients are initiated on a DCCR dose of about 1.5 mg/kg (maximum starting dose of 145 mg) and are…
- Trial name
- NCT02034071
- Testing
- DCCR
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Essentialis, Inc.
Down Syndrome
Infants With Down Syndrome on a Different Surface
This study included infants with Down syndrome who applied to the Faculty of Physical Therapy and Rehabilitation, Developmental and Early Physiotherapy Unit of Hacettepe University.
- Trial name
- NCT04539535
- Testing
- General Movements Assessment on two different surfaces in infants with DS and typically infants on the same day
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
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
Fragile X Syndrome
An Open Label Extension Study in Subjects With Fragile X Syndrome
This study will enroll subjects who have completed Protocols 209FX301, 209FX302, or are currently participating in Protocol 2202 into a long-term study in which all subjects will receive active drug (arbaclofen).
- Trial name
- 209FX303 (NCT01555333)
- Testing
- arbaclofen
- Where
- 23 sites in United States
- Volunteers
- 357 people
- Sponsor
- Seaside Therapeutics, Inc.
X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD)
Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)
Study ALD-103 will be a multi-site, global, prospective and retrospective data collection study that is designed to evaluate outcomes of allo-HSCT in male subjects with CALD ≤17 years of age.
- Conditions
- X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
- Trial name
- NCT02204904
- Testing
- Allo-HSCT
- Where
- 13 sites in United States, Argentina and 5 more
- Volunteers
- 59 people
- Sponsor
- Genetix Biotherapeutics Inc.
Obesity
Remote Delivery of Weight Management for Adults With IDD
The purpose of this study is to compare different weight loss programs in people with IDD to see which program works better.
- Trial name
- NCT03291509
- Testing
- Video Conference Meetings, In-person Meetings, Enhanced Stop Light Diet
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- University of Kansas Medical Center
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Intellectual Disability, Autism
Sensors for Communication for Persons Who Cannot Communicate Unequivocally
Some persons with intellectual disability or comprehensive cerebral palsy cannot communicate unequivocally how they are, how they react to situations and people, whether they are in pain or experience discomfort, anger or fear.
- Conditions
- Intellectual Disability, Autism, Cerebral Palsy
- Trial name
- NCT04199299
- Testing
- Heart rate and respiration rate sensors
- Where
- Norway
- Volunteers
- 100 people
- Sponsor
- University of Oslo
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
- 43 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Laughter Yoga, Intellectual Disability
Laughter Yoga's Impact on Parental Stress, Burnout, and Self-Efficacy
The present study aims to investigate the effects of laughter yoga on stress levels, burnout, and parental self-efficacy among parents of children with intellectual disabilities.
- Conditions
- Laughter Yoga, Intellectual Disability, Parents, Burnout
- Trial name
- NCT07119164
- Testing
- Laughter yoga
- Where
- Turkey (Türkiye)
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Pamukkale University
Adrenomyeloneuropathy, Adrenoleukodystrophy
Plasma Exchange With Albumin in AMN Patients
Adrenoleukodystrophy (X-ALD) is the most common genetic disorder of the brain white matter with an incidence of 1:14,700 births.
- Trial name
- NCT04303416
- Testing
- Albumin solution
- Where
- Spain
- Volunteers
- 5 people
- Sponsor
- Pujol, Aurora, M.D.
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