Clinical trials: Brain Development Abnormality
Brain Development Abnormality, Sickle Cell Disease
Brain Structure and Neurocognitive Development in Sickle Cell Disease; a Longitudinal Cohort Study (BRICK Study)
Sickle cell disease (SCD) is an autosomal recessive red blood cell blood disorder. One especially vital organ affected in SCD is the brain.
- Trial name
- BRICK (NCT05564845)
- Testing
- MR scan of the brain, Blood work, Neurological examination
- Where
- 2 sites in Netherlands
- Volunteers
- 84 people
- Sponsor
- Dr. Marjon H. Cnossen MD PhD
Brain Injuries, Brain Development Abnormality
Evaluating the Efficacy of SyMRI in Clinical Pediatric Populations
Synthetic MR Technologies has created a quantified imaging solution - SyMRI - to enable radiologists to acquire quantified images and always obtain the best contrast images.
- Conditions
- Brain Injuries, Brain Development Abnormality, Brain Pathology
- Trial name
- SyMRI (NCT03494855)
- Testing
- SyMRI Software
- Where
- Canada
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Premature Birth, Neurodevelopmental Disorders
Childhood Outcomes of Preterm Brain Abnormalities
Prematurely born children are at higher risk of cognitive impairments and behavioral disorders than full-term children. There is growing evidence of significant volumetric and shape abnormalities in subcortical structures of…
- Conditions
- Premature Birth, Neurodevelopmental Disorders, Brain Development Abnormality, Brain Lesion
- Trial name
- NCT03410810
- Testing
- MRI, Neurodevelopmental/Neuropsychological Assessment
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Los Angeles
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
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
Preterm Birth, Breast Milk Expression
Targeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development
This study is a randomized trial comparing 2 methods of human milk fortification for preterm infants in the neonatal intensive care unit (NICU).
- Conditions
- Preterm Birth, Breast Milk Expression, Nutrition Disorder, Infant, Brain Development Abnormality
- Trial name
- NCT03977259
- Testing
- Individually targeted fortification
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- Brigham and Women's Hospital
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Infant Development, Hypoglycemia Neonatal
Continuous Glucose Monitoring and Cerebral Oxygenation in Preterm Infants
Neonatal hypoglicaemia is associated with impaired neurodevelopment outcomes in preterm infants. Thus, hypoglicemic events should be diagnosed and treated promptly.
- Conditions
- Infant Development, Hypoglycemia Neonatal, Neurodevelopmental Abnormality
- Trial name
- Glucolight (NCT04347590)
- Testing
- Unblinded - CGM (Medtronic Guardian), Blinded - CGM (Medtronic Guardian)
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- University Hospital Padova
Epilepsy; Seizure, Child Development
Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age
According to estimates by the World Health Organization in 2019, more than 50 million people around the world have epilepsy. Nearly 80% of patients with epilepsy live in developing countries.
- Conditions
- Epilepsy; Seizure, Child Development, Gene Abnormality, Early Onset Disorder
- Trial name
- NCT06278428
- Where
- 2 sites in Vietnam
- Volunteers
- 50 people
- Sponsor
- Number 2 Children's Hospital, Ho Chi Minh City
Malformations, Multiple Abnormalies
Phenotype and Etiology of Pallister-Hall Syndrome
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl…
- Conditions
- Malformations, Multiple Abnormalies, Polydactyly
- Trial name
- NCT00001404
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 1,170 people
- Sponsor
- National Human Genome Research Institute (NHGRI)