Clinical trials: Disabilities, Intellectual
Prader Willi Syndrome, Hypoglycemia
Hypoglycemia in Prader-Willi Syndrome
This project will study whether infants with Prader-Willi Syndrome experience low blood sugars after short periods of fasting. This study will also evaluate metabolic markers in the blood to determine if infants with Prader-Willi…
- Trial name
- NCT01897363
- Testing
- Infants with Prader-Willi Syndrome
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Hunter Syndrome
An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
The objective of this study is to evaluate the effect of anti-idursulfase antibodies on idursulfase safety (measured by infusion related adverse events) between patients who develop anti-idursulfase antibodies and patients who do…
- Trial name
- NCT00882921
- Testing
- Idursulfase
- Where
- 6 sites in United States, Brazil and 1 more
- Volunteers
- 26 people
- Sponsor
- Shire
Autistic Disorders Spectrum
Word Learning in Children With Autism
The project highlights one of the primary areas of research within the KIDDRC- language and communication. The focus is on language and communication in children with autism and minimal verbal skills (less than 20 spoken words).
- Trial name
- NCT03419611
- Testing
- Multi-Modal, Treatment as Usual, High Intensity Multi-Modal
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- University of Kansas
Rett Syndrome
Analysis of the Glutathione Cycle in Children With Rett Syndrome
Analyis of the Glutathione Cycle in Children with Rett Syndrome
- Trial name
- NCT02360436
- Where
- United States
- Sponsor
- Edison Pharmaceuticals Inc
Prader-Willi Syndrome, Obesity
Effects of Transcranial Direct Current Stimulation (tDCS) on Individuals With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypotonia, mental retardation, hyperphagia, and uncontrollable hunger due to hypothalamic dysfunction, caused by dysregulation of genes located in…
- Conditions
- Prader-Willi Syndrome, Obesity, Depressive Disorder, Obsessive-Compulsive Disorder
- Trial name
- NCT03324906
- Testing
- tDCS
- Where
- Brazil
- Volunteers
- 40 people
- Sponsor
- Federal University of São Paulo
Prader-Willi Syndrome, Obesity
A Study of Setmelanotide in Patients With Prader-Willi Syndrome
This is a Phase 2, open-label study designed to assess the safety and efficacy of setmelanotide in patients with obesity due to Prader-Willi Syndrome (PWS) who are 6 to 65 years of age.
- Conditions
- Prader-Willi Syndrome, Obesity, Hyperphagia
- Trial name
- NCT06772597
- Testing
- Setmelanotide
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
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
Down Syndrome (Trisomy 21)
Qualitative Effects of AEF0217 in Down Syndrome People
Following the AEF0217-102 trial (NCT05748405), which investigated the effects of AEF0217 versus placebo, participants with Down syndrome and their caregivers who took part in the trial are invited to share their perceptions of…
- Trial name
- NCT07413224
- Where
- Spain
- Volunteers
- 28 people
- Sponsor
- Aelis Farma
DDX3X, Mental Retardation, X-linked 102
DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
DDX3X syndrome is a genetic cause of intellectual disability and other neurologic features including, in some cases, autism. Variants in the DDX3X gene are thought to account for 1-3% of unexplained intellectual disability in…
- Conditions
- DDX3X, Mental Retardation, X-linked 102, Autism Spectrum Disorder
- Trial name
- NCT03718910
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Intellectual Disability, Adolescent Development
Prevention Among Young People With Intellectual Disability
This study aims to evaluate an intervention using the Toolkit "Children - what does it involve?" and the "Real-Care-Baby" (RCB) simulator among students with intellectual disability (ID), using a cluster randomized trial design…
- Conditions
- Intellectual Disability, Adolescent Development, Young Adult
- Trial name
- NCT03348124
- Testing
- "Children - what does it involve?"
- Where
- Sweden
- Volunteers
- 59 people
- Sponsor
- Uppsala University
Down Syndrome, Trisomy 21
Use of Partial Body Weight Support Play Environment to Encourage Mobility and Exploration in Infants With Down Syndrome
To explore the effects of Partial Body Weight Support (PBWS) within an enriched play environment for infants with Down Syndrome (DS), who are not yet walking, to better understand how PWBS may impact their mobility; exploration…
- Trial name
- NCT05307523
- Testing
- Enriched Play Environment with Partial Body Weight Support Harness, Enriched Play Environment without Partial Body Weight Support Harness
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- University of Washington
Autistic Disorder, Pervasive Developmental Disorder
Advanced Grandparental Age as a Risk Factor for Autism
The Division of Medical Genetics at the University of Mississippi Medical Center is recruiting parents of children with a pervasive developmental disorder (including autism, autistic spectrum disorder, PDD-NOS, Asperger syndrome…
- Conditions
- Autistic Disorder, Pervasive Developmental Disorder, Asperger Syndrome, Childhood Disintegrative Disorder
- Trial name
- NCT00464477
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Mississippi Medical Center
Down Syndrome
Effects of Down Dog Yoga on Pre-writing Skills in Children With Down Syndrome
Down syndrome is a genetic condition caused by an extra chromosome 21, affecting physical and cognitive development. This study will evaluate the effects of down dog yoga on prewriting skills in children with Down syndrome aged…
- Trial name
- NCT06977672
- Testing
- Down Dog Yoga, Traditional
- Where
- Pakistan
- Volunteers
- 34 people
- Sponsor
- Riphah International University
Mental Retardation, Cerebral Palsy
Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community
To evaluate the demographic characteristics of patients suffering from mental retardation or cerebral palsy in the Israeli Arab community.
- Trial name
- NCT02214745
- Testing
- Questionnaire
- Where
- Israel
- Volunteers
- 400 people
- Sponsor
- Hillel Yaffe Medical Center
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT06560242
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Hypofibrinogenemia, Afibrinogenemia
Human Fibrinogen Concentrate in Pediatric Cardiac Surgery
The goal of the study is to determine whether the use of Human Fibrinogen Concentrate (RiaSTAP) will decrease blood loss and the need for component blood therapy in neonates and infants undergoing cardiopulmonary bypass.
- Conditions
- Hypofibrinogenemia, Afibrinogenemia, Bleeding Disorders
- Trial name
- RiaSTAP (NCT02822599)
- Testing
- RiaStAP, Saline
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Williams Syndrome
Fat Distribution and Glucose Metabolism in Williams Syndrome
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and…
- Trial name
- NCT01864304
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Rett Syndrome
Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms
This study evaluates the safety, tolerability and efficacy of Sarizotan in reducing respiratory abnormalities in Rett Syndrome in an initial double blind 24 week period followed by an open label treatment phase of up to 168 weeks…
- Trial name
- STARS (NCT02790034)
- Testing
- Sarizotan low dose, Sarizotan high dose
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 129 people
- Sponsor
- Newron Pharmaceuticals SPA
Genetic, Diagnostic Strategies
A Study of the Value of Trio Genome Sequencing in the Etiological Evaluation of Early-Onset and/or Atypical Psychiatric Disorders Without Intellectual Disability or Congenital Anomalies
According to the World Health Organization, one in eight people worldwide has a mental disorder, defined as a significant impairment in thinking, emotional regulation, or behavior.
- Trial name
- PSYGEN (NCT07686653)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 255 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Intellectual Developmental Disorder, X-LINKED
Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.
DDX3X related disorder is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities.
- Trial name
- NCT04436588
- Testing
- Epigenetic signatures
- Where
- France
- Volunteers
- 10 people
- Sponsor
- University Hospital, Montpellier