Clinical trials: Neurodevelopmental Disorders and Developmental Abnormalities
Angelman Syndrome, Nervous System Diseases
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating the symptoms of AS.
- Trial name
- NCT00348933
- Testing
- Betaine, Creatine, Metafolin
- Where
- 4 sites in United States
- Volunteers
- 90 people
- Sponsor
- University of California, San Diego
Autism Spectrum Disorder, EEG With Periodic Abnormalities
Safety and Efficacy of tPBM for Epileptiform Activity in Autism
For this study, the proposed intervention will be noninvasively delivered near infra-red (NIR) light - transcranial Photobiomodulation (tPBM) - to the brains of autistic children with abnormal EEGs with epileptiform discharges or…
- Conditions
- Autism Spectrum Disorder, EEG With Periodic Abnormalities, Epilepsy, Neurodevelopmental Disorders
- Trial name
- tPBM (NCT06352372)
- Testing
- noninvasively delivered near infra-red (NIR) light - transcranial Photobiomodulation (tPBM)
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Richard Frye
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Fragile X Syndrome, FXS
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome.
- Conditions
- Fragile X Syndrome, FXS, Fra(X) Syndrome
- Trial name
- NCT03569631
- Testing
- BPN14770
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Tetra Discovery Partners
Fragile X Syndrome
Trial of Sertraline to Treat Children With Fragile X Syndrome
This study is a control trial of sertraline (Zoloft) in fragile X syndrome children aged 2 years to 5 years 8 months old. The trial is six months long, and each participant will receive a series of tests at both the beginning and…
- Trial name
- NCT01474746
- Testing
- Sertraline
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Randi J. Hagerman, MD
Fragile X Syndrome, Autism Spectrum Disorders
Acamprosate in Youth With Fragile X Syndrome
Fragile X syndrome (FXS) is the most common inherited form of developmental disability. FXS is inherited from the carrier parent, most often the mothers.
- Trial name
- NCT01300923
- Testing
- Acamprosate
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Indiana University
Rett Syndrome
Treatment of Rett Syndrome With Recombinant Human IGF-1
Investigators are recruiting children for a clinical trial using the medication recombinant human IGF-1 (a.k.a. mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT).
- Trial name
- NCT01777542
- Testing
- Recombinant Human Insulin Growth Factor 1 (rhIGF-1)
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Boston Children's Hospital
Encephalopathy, Birth Defect
Clinical Utility of Pediatric Whole Exome Sequencing
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
- Conditions
- Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly
- Trial name
- NCT03525431
- Testing
- Whole Exome Sequencing
- Where
- 4 sites in United States
- Volunteers
- 529 people
- Sponsor
- University of California, San Francisco
Autism Spectrum Disorders
Genetics, Brain Structure and Thinking Skills in Autism
The purpose of this research is to better understand the genetic, biochemical, cognitive and behavioral symptom abnormalities that contribute to autism spectrum disorders.
- Trial name
- NCT01451983
- Where
- United States
- Volunteers
- 138 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
Adolescent Behavior, Intellectual Disability
Promotion of Physical Activity in Adolescents With Intellectual and Developmental Disabilities
The objective of this study is to compare the effect of two strategies to increase MVPA in adolescents with intellectual and developmental disabilities (IDD): a single level intervention delivered to the adolescent only, and a…
- Conditions
- Adolescent Behavior, Intellectual Disability, Down Syndrome, Physical Activity
- Trial name
- NCT03684512
- Testing
- Group Exercise Sessions, Individual Support Sessions, Facebook Group
- Where
- United States
- Volunteers
- 116 people
- Sponsor
- University of Kansas
Intellectual Disability, Autism
Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Current lab reports are designed to communicate results from the laboratory to the provider; they are not designed to be accessible to patients.
- Conditions
- Intellectual Disability, Autism, Multiple Congenital Anomalies
- Trial name
- NCT02504502
- Testing
- enhanced genomic report
- Volunteers
- 52 people
- Sponsor
- Geisinger Clinic
Tuberous Sclerosis Complex
Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)
Tuberous Sclerosis Complex (TSC) is a multi-system disease, usually presenting with seizures, mental retardation and autism, and exhibiting a high variability in clinical findings both among and within families.
- Trial name
- TSC (NCT01289912)
- Testing
- RAD001
- Where
- 2 sites in United States
- Volunteers
- 52 people
- Sponsor
- Mustafa Sahin
Congenital Heart Disease, Periventricular Leucomalacia
Randomized Trial of Maternal Progesterone Therapy
Neurodevelopmental disability is now recognized as the most common long-term complication after cardiac surgery in neonates. Research studies have shown that progesterone is critical to the development of the brain and in a…
- Conditions
- Congenital Heart Disease, Periventricular Leucomalacia, Brain Development, Cardiac Surgery
- Trial name
- NCT02133573
- Testing
- Progesterone, Vaginal lubricant
- Where
- United States
- Volunteers
- 102 people
- Sponsor
- Children's Hospital of Philadelphia
Developmental Disabilities, Weight Loss
Weight Management for Adolescents With IDD
The goal of this study is to explore the impact of two different diets (conventional vs. enhanced stop light) and two different delivery systems (face-to-face vs.
- Conditions
- Developmental Disabilities, Weight Loss, Body Weight, Down Syndrome
- Trial name
- IDDAdol (NCT02561754)
- Testing
- Enhanced Stop Light Diet (eSLD), Conventional Diet (CD), Face-to-face (FTF)
- Where
- 2 sites in United States
- Volunteers
- 110 people
- Sponsor
- University of Kansas Medical Center
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
Phosphatase and TENsin homolog (PTEN) gene germline mutations are associated with a spectrum of clinical manifestations characterized by neurocognitive deficits, intellectual disability, autism symptomatology, skin lesions…
- Trial name
- NCT02991807
- Testing
- RAD001
- Where
- 3 sites in United States
- Volunteers
- 46 people
- Sponsor
- Boston Children's Hospital
Craniosynostoses
Neurodevelopmental Outcomes in Craniosynostosis Repair
Context: Craniosynostosis is a common craniofacial abnormality which can be associated with various clinical syndromes. Though it has been established that children with craniosynostosis score lower on certain developmental…
- Trial name
- NCT04072783
- Testing
- MRI,DTI, functional MRI
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Autism Spectrum Disorder, Cerebral Palsy
READYorNot[TM] Brain-Based Disabilities Trial
The purpose of this study is to find out if there is a benefit to using the MyREADY Transition[TM] BBD App for brain-based disabilities, compared to not using it.
- Conditions
- Autism Spectrum Disorder, Cerebral Palsy, Epilepsy, Fetal Alcohol Spectrum Disorders
- Trial name
- NCT03852550
- Testing
- e-health application
- Where
- 9 sites in Canada
- Volunteers
- 52 people
- Sponsor
- McMaster University
Tuberous Sclerosis Complex, Self-injury
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
The purpose of this study is to assess the feasibility and safety of administering rapalogues, sirolimus or everolimus, in participants with Tuberous Sclerosis Complex (TSC) and self-injury and to measure cognitive and behavioral…
- Conditions
- Tuberous Sclerosis Complex, Self-injury, Autism
- Trial name
- RAPT (NCT01929642)
- Testing
- Sirolimus, Everolimus
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.