Clinical trials: Intellectual Disabilities
Hunter Syndrome
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
Cornelia de Lange Syndrome
Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic…
- Trial name
- NCT03113877
- Testing
- Autonomic Dysfunction Testing
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Mayo Clinic
Prader-Willi Syndrome, Excessive Daytime Sleepiness
Impact of Bright Light Therapy on Prader-Willi Syndrome
This is a placebo controlled clinical trial to assess the utility of light therapy as a sufficient treatment for excessive daytime sleepiness in patients with Prader-Willi Syndrome
- Conditions
- Prader-Willi Syndrome, Excessive Daytime Sleepiness, Hyperphagia, Body Weight
- Trial name
- PWS-LT (NCT05939453)
- Testing
- Bright Light Therapy
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Maimonides Medical Center
Prader-Willi Syndrome, Sarcopenia
Ultrasound to Assess Sarcopenia in Prader Willi Syndrome
The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived…
- Conditions
- Prader-Willi Syndrome, Sarcopenia, Metabolic Syndrome
- Trial name
- PWS (NCT06448871)
- Testing
- Ultrasound assessment of the right lower extremity muscles, Dual-energy X-ray absorptiometry (DXA) scan
- Where
- Taiwan
- Volunteers
- 49 people
- Sponsor
- Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
Physical Inactivity, Cerebral Palsy
Effects of Physical Activity on Prescription (PAP) as a Health-enhancing Intervention in People With Disabilities
Physical inactivity is an increasing problem in the general population in society. However, in people with disabilities, inactivity is even more frequently reported.
- Conditions
- Physical Inactivity, Cerebral Palsy, Autism, Autism Spectrum Disorder
- Trial name
- PAP (NCT05867940)
- Testing
- Physical activity on prescription
- Where
- Sweden
- Volunteers
- 80 people
- Sponsor
- Region Skane
Adrenoleukodystrophy
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II.
- Trial name
- NCT00004418
- Testing
- glyceryl trierucate/glyceryl trioleate
- Where
- 2 sites in United States
- Volunteers
- 126 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Prader-Willi Syndrome
Intranasal Oxytocin for Infants With Prader-Willi Syndrome
The purpose of this study is to compare the change in suck and swallow competency from baseline to morning of day 6 with intranasal oxytocin spray vs placebo in infants/children with Prader-Willi Syndrome who are in nutritional…
- Trial name
- NCT03245762
- Testing
- Oxytocin
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Florida
Down Syndrome, Obstructive Sleep Apnea
Using Personal Mobile Technology to Identify Obstructive Sleep Apnea in Children With Down Syndrome (UPLOAD)
This study aims to see if mobile video clips (smartphone recordings) can be used to screen children with Down syndrome to identify those at highest risk of obstructive sleep apnea (OSA), so they can be prioritized for an earlier…
- Conditions
- Down Syndrome, Obstructive Sleep Apnea, Child
- Trial name
- UPLOAD (NCT04022460)
- Testing
- Video clip assessment, Polysomnography (sleep study), Educational webinar
- Where
- Canada
- Volunteers
- 141 people
- Sponsor
- Children's Hospital of Eastern Ontario
Hunter Syndrome
A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
The main aim of this study is to learn more about the safety profile of Elaprase in Indian children and adults with hunter syndrome.
- Trial name
- NCT05058391
- Testing
- Elaprase
- Where
- 5 sites in India
- Volunteers
- 5 people
- Sponsor
- Takeda
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, Down Syndrome (Trisomy 21)
Sleep Intervention and Quality of Life in Down Syndrome
Aim 1 of the proposed project will be to adapt the virtual Mindfulness-Based Therapy for Insomnia (MBTI) for individuals with Down syndrome (DS).
- Trial name
- SleepDS (NCT06783725)
- Testing
- Mindfulness-Based Therapy for Insomnia, Wait-list control
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Alabama at Birmingham
Rett Syndrome
Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
A phase 2 open label trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of severe neurological impairment in girls.
- Trial name
- NCT02153723
- Testing
- Glatiramer Acetate
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Montefiore Medical Center
Down Syndrome
Efficacy of Bumetanide to Improve Cognitive Functions in Down Syndrome
The aim of the study is to evaluate the clinical efficacy of a known diuretic drug, Bumetanide, in terms of improvement of memory and psychological functioning in children and adolescents with Down syndrome (DS), in order to…
- Trial name
- NCT06465823
- Testing
- Bumetanide
- Where
- Italy
- Volunteers
- 64 people
- Sponsor
- Stefano Vicari
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Intellectual Disability, Congenital Abnormalities
Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Apparently balanced chromosomal rearrangement (ABCR) associated with an abnormal phenotype is a rare but problematic event. It occurs in 6% of de novo reciprocal translocations and 9% of de novo inversions.
- Trial name
- ANI (NCT02451761)
- Testing
- Blood sampling
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Hospices Civils de Lyon
Down Syndrome, Child Obesity
HomeGrown: A Family-based Lifestyle Intervention to Support Healthy Development of Young Children With Down Syndrome
The goal of this project is to evaluate an adapted health promotion program, HomeGrown, designed to improve the health of young children with Down syndrome by supporting families in making healthy home environmental changes.
- Trial name
- HomeGrown (NCT07296861)
- Testing
- The HomeGrown, Waitlist
- Where
- United States
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Kinky Hair Syndrome
Copper Histidine Therapy for Menkes Diseases
Menkes Disease is a genetic disorder affecting the metabolism of copper. Patient with this disease are both physically and mentally retarded. Menkes disease is usually first detected in the first 2-3 months of life.
- Trial name
- NCT00001262
- Testing
- Copper Histidine
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Alopecia Areata, Alopecia Totalis
The Epidemiology, Management and Comorbidities in Alopecia Areata in Czech Republic
The study series consists of three studies with the aim to assess the incidence, prevalence, risk factors, comorbidities and management of patients with alopecia areata in Czech Republic based on the patients and registry of a…
- Conditions
- Alopecia Areata, Alopecia Totalis, Alopecia Universalis, Alopecia Areata (& Ophiasis)
- Trial name
- NCT05098600
- Testing
- Exposure of interest
- Where
- Czechia
- Volunteers
- 123 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
The purpose of the study is to prospectively assess longitudinal changes in biomarkers (MECP2, potential biomarkers of target engagement and disease activity) in cerebrospinal fluid (CSF) and blood; characterize longitudinal…
- Trial name
- NCT06014541
- Where
- 5 sites in United States
- Volunteers
- 29 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
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