Clinical trials: Dysmorphia
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Vaccine Adverse Reaction
Peri-conceptional or Pregnancy Exposure of Vaccination and the Risk of Adverse Pregnancy Outcomes
Uing data from a population based cohort in China, we will conduct retrospective cohort study to evaluate the risk of vaccine (e.g., HPV/influenza/rabies vaccine) administered during pregnancy (especially during first trimester)…
- Trial name
- NCT06180447
- Testing
- Hepatitis B vaccine, rabies vaccine, HPV vaccine, influenza vaccine
- Where
- China
- Volunteers
- 150,000 people
- Sponsor
- Sun Xin
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
Gastroschisis, Bowel Obstruction
The Use of Gastrografin to Help Alleviate Bowel Obstruction in Gastroschisis Patients.
This study will investigate the use of a drug called Gastrografin to aid in bowel mobility for paediatric patients who have undergone gastroschisis surgery.
- Conditions
- Gastroschisis, Bowel Obstruction, Birth Defect
- Trial name
- NCT03334578
- Testing
- Gastrografin
- Where
- Canada
- Sponsor
- London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Hernias, Diaphragmatic, Congenital, Hernia; Diaphragm Defect, Congenital
Physiological-based Cord Clamping in Congenital Diaphragmatic Hernia
Pulmonary hypertension is a major determinant of postnatal survival in infants with a congenital diaphragmatic hernia (CDH). The current care during the perinatal stabilisation period in infants born with this rare birth defect…
- Conditions
- Hernias, Diaphragmatic, Congenital, Hernia; Diaphragm Defect, Congenital, Pulmonary Hypertension
- Trial name
- PinC (NCT04373902)
- Testing
- Physiological-based cord clamping
- Where
- 9 sites in Australia, Austria and 5 more
- Volunteers
- 144 people
- Sponsor
- Erasmus Medical Center
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
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
Intellectual Developmental Disorder, Malformations
The Belgian Genome Resource to Resolve Rare Diseases
Whole-exome (WES) or whole-genome sequencing (WGS) are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of WGS continues to be debated.
- Conditions
- Intellectual Developmental Disorder, Malformations, Dysmorphia, Developmental Delay (Disorder)
- Trial name
- BeSolveRD (NCT07051213)
- Testing
- Whole exome sequencing, Whole genome Sequencing
- Where
- Belgium
- Volunteers
- 567 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Hypospadias
A Multimodal Study of the Relationship Between Exposure to Endocrine Disruptors and Occurrence of Hypospadias - HYPOLLUT
This study aims to demonstrate the impact of Endocrine-Disrupting Chemicals (EDCs) on the risk of hypospadias incidence. It is a multicenter comparative case-control study, involving two groups.
- Trial name
- HYPOLLUT (NCT06628375)
- Testing
- Consultation visit (Visit 1)
- Where
- France
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Immunodeficiency, Skeletal Abnormalities
European Alpha-Mannosidosis Participant
International, multicenter, observational, longitudinal monitoring study to investigate the prevalence of Alpha-Mannosidosis in participants at risk for Alpha-Mannosidosis.
- Conditions
- Immunodeficiency, Skeletal Abnormalities, Deafness, Mental Retardation
- Trial name
- EUMAP (NCT03651245)
- Where
- 19 sites in Germany, Switzerland
- Volunteers
- 667 people
- Sponsor
- CENTOGENE GmbH Rostock
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between…
- Conditions
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome
- Trial name
- FINDFSS (NCT05419245)
- Testing
- Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Dufresne, Craig, MD, PC
Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive
Natural History in CCFDN and IBM Syndromes
So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM).
- Conditions
- Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive, Inclusion Body Myopathy, Autosomal-dominant, Congenital Cataracts, Facial Dysmorphism, And Neuropathy
- Trial name
- NCT01902940
- Testing
- Natural History
- Where
- Germany
- Volunteers
- 350 people
- Sponsor
- Ludwig-Maximilians - University of Munich