Clinical trials: Developmental Abnormality
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
Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant
This protocol provides expanded access to bone marrow transplants for children who lack a histocompatible (tissue matched) stem cell or bone marrow donor when an alternative donor (unrelated donor or half-matched related donor)…
- Conditions
- Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Chronic Myeloid Leukemia, Myelodysplastic Syndrome
- Trial name
- NCT01200017
- Testing
- CD34+ enriched, T Cell Depleted donor stem cell product
- Where
- United States
- Sponsor
- Christopher Dvorak
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
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
Vascular Anomaly, Osler Rendu Disease
Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
There are no prospective studies of pregnancies for the diseases studied here in (Heredity Hemorrhagic Telangiectasia, Marfan syndrome or related, primary lower limb lymphedema, superficial arteriovenous malformations, and…
- Conditions
- Vascular Anomaly, Osler Rendu Disease, Marfan Syndrome or Related, Lymphedema Primary
- Trial name
- COGRare5 (NCT04194619)
- Testing
- Questionnaire
- Where
- 37 sites in France
- Volunteers
- 400 people
- Sponsor
- Hospices Civils de Lyon
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Dental Enamel Hypomineralization
Clinical Success of Stainless Steel Crowns Applied Using Different Cements
The main question of the study was to evaluate the one-year clinical success of SSc bonded with two different cement types in MIH teeth with excessive material loss.
- Trial name
- NCT06318520
- Testing
- Use of Calcium silicate based resin cement and resin modified glass ionomer cement
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Afyonkarahisar Health Sciences University
HIV Infections, Dyslipidemias
Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects
This is a randomised study of the effect of treatment with Combivir (zidovudine [AZT] and lamivudine [3TC]) and Kaletra (lopinavir [LPVr]), alone and in combination, on the development of abnormalities in lipid and glucose…
- Conditions
- HIV Infections, Dyslipidemias, Glucose Metabolism Disorders, Metabolic Diseases
- Trial name
- NCT00192621
- Testing
- Combivir (zidovudine [AZT] / lamivudine [3TC]), Kaletra (lopinavir [LPVr])
- Where
- Australia
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Kirby Institute
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
Fetal Anomalies, Brain Malformation
AIRFRAME: Artificial Intelligence for Recognition of Fetal bRain AnoMaliEs at Second Trimester Fetal Brain Scan
Obstetric ultrasound represents the standard of care for the screening of the fetal anomalies. However, its performance is dependent upon several parameters including type of anomaly, gestational age, maternal habitus and skills…
- Trial name
- AIRFRAME (NCT06675266)
- Testing
- Development of AI algorithm for early detection of fetal brain anomalies in the second trimester screening scan
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sex Chromosome Abnormality, Klinefelter Syndrome
Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns.
- Conditions
- Sex Chromosome Abnormality, Klinefelter Syndrome, Turner Syndrome, Metabolic Disease
- Trial name
- EMKISCA (NCT05425953)
- Testing
- No intervention other than obtaining biopsies
- Where
- Denmark
- Volunteers
- 320 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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
Copy Number Variations
Development of a NIPTT for Detecting Copy Number Variations
To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest…
- Trial name
- NCT04774640
- Testing
- MaterniT GENOME
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Sequenom, Inc.
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
Central Auditory Processing Disorder, Hearing Impaired (Partially)
A Treatment for a Form of Age-Related Central Auditory Processing Disorder Consisting of Clemastine Fumarate Plus Engineered Sound
The goal of this clinical trial is to determine the efficacy of Clemastine Fumarate in the presence of engineered sound to treat age-related central auditory processing disorder (CAPD).
- Conditions
- Central Auditory Processing Disorder, Hearing Impaired (Partially), Hearing, Hearing Abnormality
- Trial name
- CAPD-LOOT (NCT07304024)
- Testing
- Clemastine Fumarate Combined With Engineered Sound, Clemastine Fumarate Combined With Pink Noise
- Where
- United States
- Volunteers
- 344 people
- Sponsor
- University of Colorado, Denver
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.