Clinical trials: Developmental Abnormality
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
Neurological Development After Exposition to an Antenatal Nuchal Translucency
Follow up of Neurologic Development of Children Who Presented at the First Trimester of Pregnancy an Isolated Nuchal Anomaly With Normal Karyotype
Prospective, multicenter study following for 2 years, 250 children who presented during the first trimester of pregnancy an isolated nuchal translucency over the 95th percentile of Nicolaïdes Curves on ultrasound and comparing…
- Trial name
- EDEN (NCT02223936)
- Testing
- group exposed, Control
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Pectus Excavatum
Non-invasive Negative Pressure Treatment for Pectus Excavatum
The purpose of this study is to determine whether the non-invasive negative pressure treatment with the use of the device Vacuum Bellfor is effective for the pectus excavatum treatment
- Trial name
- NCT01816373
- Testing
- Vacuum Bell
- Where
- 2 sites in Brazil
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Gorham Disease, Lymphatic Diseases
Imaging of Lymphatic Anomalies
Lymphatic Anomalies (LA) is characterized by proliferation of lymphatic tissue causing deterioration of pulmonary function. Understanding changes in lymphatic anatomy in these patients is hindered by the difficulty of imaging the…
- Conditions
- Gorham Disease, Lymphatic Diseases, Lymphangiomatosis
- Trial name
- NCT02744027
- Testing
- Dynamic Contrast Enhanced Magnetic Resonance Lymphangiography (DCMRL), Heavy Weighted T2 Imaging (T2W), Lymph Node Access
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital of Philadelphia
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
Neurodevelopmental Abnormality
Umbilical Cord Milking in Non-Vigorous Infants Developmental Followup (MINVIFU)
A sub-study to evaluate longer-term developmental outcomes in non-vigorous term and near-term newborns who receive umbilical cord milking in comparison to those who undergo early cord clamping at delivery.
- Trial name
- MINVIFU (NCT03621943)
- Testing
- Umbilical Cord Milking, Early Cord Clamping
- Where
- 10 sites in United States, Canada and 1 more
- Volunteers
- 1,207 people
- Sponsor
- Sharp HealthCare
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
Down Syndrome, Aneuploidy
Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies
To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from…
- Trial name
- CHARMM-AP (NCT01052688)
- Testing
- Maternal blood draw of 30 to 50ml
- Where
- 10 sites in United States
- Volunteers
- 150 people
- Sponsor
- Sequenom, Inc.
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
Tooth Abnormalities, Tooth Abnormality
Analysis of Tooth Root Number
The aim of this cross-sectional study is to assess the number of roots in permanent teeth. For this reason, researchers will conduct an analysis of CBCT scans.
- Conditions
- Tooth Abnormalities, Tooth Abnormality, Tooth Anatomy, Tooth Development Disorder
- Trial name
- NCT07170956
- Where
- Poland
- Volunteers
- 4,000 people
- Sponsor
- Hospital of the Ministry of Interior, Kielce, Poland
Lymphatic Diseases, Lymphatic Abnormalities
A Prospective Natural History Study of Lymphatic Anomalies
Background: The lymphatic system is a network of vessels that carry a clear fluid called lymph through the body. Problems in the lymphatic system can cause pain, fluid buildup, and issues with immunity.
- Trial name
- NCT05731141
- Where
- 2 sites in United States
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
HIV Infections, Exposure During Pregnancy
Neuropsychological Development and Executive Functioning of Children Born to HIV- Infected Mothers ( NEUROPSY-HEU )
Main objective: to evaluate the executive functioning of the HIV exposed uninfected children (HEU) versus children from the same socio-economic and cultural environment, not infected or affected by HIV.
- Conditions
- HIV Infections, Exposure During Pregnancy, Neurophysiologic Abnormality, Executive Dysfunction
- Trial name
- NEUROPSY-HEU (NCT04108728)
- Testing
- BRIEF SCORE AT INCLUSION
- Where
- 3 sites in France
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Lymphatic Malformation, Generalized Lymphatic Anomaly (GLA)
Lymphatic Anomalies Registry for the Assessment of Outcome Data
Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical…
- Conditions
- Lymphatic Malformation, Generalized Lymphatic Anomaly (GLA), Central Conducting Lymphatic Anomaly, CLOVES Syndrome
- Trial name
- NCT02399527
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Boston Children's Hospital
Pectus Excavatum, Cardiac Anomaly
Capturing Physiologic Autonomic Data from Clinically Indicated Magnetic Resonance Imaging Scans in Children
The Fontan Procedure is a palliative surgical procedure used in pediatric patients with one functional ventricle. The procedure, a series of stepwise operations that alter cardiorespiratory physiology, separate the systemic and…
- Trial name
- CMRI (NCT06110689)
- Testing
- VU-AMS device
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Craniosynostosis
Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
Craniosynostosis (CS) is a common malformation occurring in ~4 per 10,000 live births in which the sutures between skull bones close too early, causing long-term problems with brain and skull growth.
- Trial name
- NCT03025763
- Testing
- Craniosynostosis Network Environmental Survey, 2D/3D Photography, Buccal Swab Cell Sampling
- Where
- 20 sites in United States, France and 3 more
- Volunteers
- 2,145 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
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)
Cleft Palate
Relational Development in Children With Cleft Lips and Palates: Influence of the Waiting Period Prior to the First Surgical Intervention and the Parents' Psychological Perception of the Abnormality
The treatment of patients suffering from cleft lip(s) with or without a cleft palate (CL/P) is multidisciplinary. The careful consideration of concerned families during the repetitive appointments required by these treatments…
- Trial name
- NCT00993993
- Where
- 6 sites in France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Strasbourg, France
Zika Virus Infection, Neurocognitive Deficit
Zika and Neurodevelopment Among Infants in Grenada
Implement a randomized controlled trial, evidence-based, culturally adapted, environmental enrichment intervention for the purpose of enhancing neurocognitive outcomes among Zika Exposed Children.
- Conditions
- Zika Virus Infection, Neurocognitive Deficit, Development, Child, Neurodevelopmental Abnormality
- Trial name
- NCT04697147
- Testing
- Conscious Discipline-Based Environmental Enrichment Intervention
- Where
- Grenada
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Windward Islands Research and Education Foundation
Developmental Abnormality
The Diagnostic Observatory: Combating Diagnostic Wandering and Impasse Within the AnDDI-Rares Network
The Direction Générale de l'Organisation des Soins (DGOS) and the Banque Nationale de Données Maladies Rares (BNDMR) have launched a call for a letter of commitment for the implementation of a diagnostic observatory in order to…
- Trial name
- Obs du Diag (NCT05448326)
- Testing
- Questionnaire to assess expectations of a diagnosis, Questionnaire to assess understanding of previously reported results and expectations of a diagnosis, Blood sample +/- skin biopsy
- Where
- France
- Volunteers
- 1,280 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
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