Clinical trials: Disabilities, Intellectual
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)
X-linked Adrenoleukodystrophy, Adrenomyeloneuropathy
The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)
X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disorder characterised by accumulation of very long chain fatty acids (VLCFA) in plasma and tissue. Presumably this accumulation is responsible for tissue damage.
- Trial name
- BEZA (NCT01165060)
- Testing
- Bezafibrate
- Where
- Netherlands
- Volunteers
- 10 people
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
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
Down Syndrome
Gamma Frequency Stimulation in Individuals With Down Syndrome
Down Syndrome (DS) is characterized by an additional copy of chromosome 21, which also increases risk of Alzheimer's Disease (AD).
- Trial name
- NCT05196984
- Testing
- GENUS device (Active Settings)
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Massachusetts Institute of Technology
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
Asthma in Children, Intellectual Disabilities (F70-F79)
Using a Smart Inhaler to Support Asthma Management in Adolescents With Intellectual and Developmental Disabilities
Correct use of daily medications containing inhaled corticosteroids is key for asthma control, yet children with intellectual and developmental disabilities (IDD) face additional barriers to proper inhaler use.
- Conditions
- Asthma in Children, Intellectual Disabilities (F70-F79), Developmental Disability, Autism Spectrum Disorder (ASD)
- Trial name
- IDD (NCT06783101)
- Testing
- Use of smart inhaler to enhance asthma inhaler proficiency
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Children's Hospital Los Angeles
Down Syndrome, Refractive Errors
Dilated Versus Non-Dilated Wavefront Corrections for Patients With Down Syndrome
Individuals with Down syndrome (DS) live with visual deficits due, in part, to elevated levels of higher-order optical aberrations (HOA).
- Trial name
- NCT05059041
- Testing
- Dilated Refraction, Non-Dilated Refraction
- Where
- 2 sites in United States
- Volunteers
- 42 people
- Sponsor
- Ohio State University
Fragile X Syndrome
Trial of Minocycline to Treat Children With Fragile X Syndrome
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant.
- Trial name
- NCT01053156
- Testing
- minocycline hydrochloride
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- University of California, Davis
Dravet Syndrome, Severe Myoclonic Epilepsy of Infancy
Treatment of Gait Disorders in Children With Dravet Syndrome
Dravet syndrome is a severe infantile onset epilepsy syndrome with a prevalence of 1/15.000 to 1/30.000. An infant with an apparently normal development presents around 6 months of age with a convulsive status epilepticus.
- Trial name
- T-GaiD (NCT03857451)
- Testing
- Clinical gait analysis
- Where
- 3 sites in Belgium
- Volunteers
- 50 people
- Sponsor
- Universiteit Antwerpen
Down Syndrome
Inspiratory Muscle Training and Physical Fitness in Children With Down Syndrome Randomized Control Trial
The purpose of this study is to investigate the effect of inspiratory muscle training on physical fitness in Down syndrome children.
- Trial name
- NCT04767412
- Testing
- aerobic exercise training, inspiratory muscle training
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Cairo University
Prader-Willi Syndrome, Obesity
Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome
The purpose of this study is to evaluate efficacy and safety of ZGN-440 (beloranib) in obese adolescent and adult subjects with Prader-Willi Syndrome.
- Trial name
- bestPWS (NCT02179151)
- Testing
- ZGN-440 for Injectable Suspension
- Where
- 15 sites in United States
- Volunteers
- 108 people
- Sponsor
- Zafgen, Inc.
Down Syndrome
Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21
Patients with trisomy 21 are in greater danger of developing caries. It has been hypothesized that adding silver nanoparticles to fluor varnishes could promote remineralization of the teeth.
- Trial name
- NCT01975545
- Testing
- Fluor varnish, Fluor varnish with nanoparticles
- Where
- Mexico
- Volunteers
- 20 people
- Sponsor
- Universidad Autonoma de San Luis Potosí
Alzheimer's Disease, Obstructive Sleep Apnea
Sleep in Adults With Down Syndrome and Alzheimer's Disease
RATIONALE of the project. Adults with Down syndrome (DS) present severe sleep disorders that are under recognized by caregivers.
- Conditions
- Alzheimer's Disease, Obstructive Sleep Apnea, Sleep Disturbances
- Trial name
- NCT03942341
- Where
- Spain
- Volunteers
- 90 people
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Metachromatic Leukodystrophy, Adrenoleukodystrophy
Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Evaluating the safety and efficacy of Lentiviral Hematopoietic Stem Cell Gene Therapy for advanced stage of Metachromatic Leukodystrophy and adrenoleukodystrophy.
- Trial name
- NCT02559830
- Testing
- transduced CD34+ hematopoietic stem cell
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Shenzhen Second People's Hospital
Down Syndrome
Home and Community Use of a Suspension Walker in Pre-Walking Infants With Down Syndrome
The goal of this clinical trial is to learn if pre-walking infants with Down syndrome can use a suspension walker in their home and community environments.
- Trial name
- NCT07631130
- Testing
- suspension walker
- Volunteers
- 12 people
- Sponsor
- University of Southern California
Deafness, Hearing Loss
Outcomes In Children With Developmental Delay And Deafness
Children with special needs require complex, individualized therapy to maximize their long-term quality of life. One subset of children with special needs includes those with both developmental delays and deafness.
- Trial name
- NCT01256229
- Testing
- cochlear implantation, hearing aids
- Where
- 2 sites in United States
- Volunteers
- 303 people
- Sponsor
- Stanford University
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