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birth-defects Clinical Trials

A listing of birth-defects medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

Found 283 clinical trials

Patient Reported Outcomes for Vascular Malformations EmbolizatioN (PROVEN)

The purpose of this study is to develop a standardized assessment for patients treated for venous malformations (VM). Venous malformations result from the abnormal development of veins which may result in pain, swelling, bleeding, functional impairment, disfigurement, and psychological distress. The impact of VM on patient quality of life varies …

- 100 years of age All Phase N/A
A Ahmet A Baschat, MD

Prospective Registry for Long-term Outcomes Following FETO in Severe Left and Right CDH

This registry study aims to confirm that FETO increases neonatal survival to discharge and reduces long-term morbidity in fetuses with isolated left CDH and o/e LHR \< 30%, or isolated right CDH and o/e LHR ≤ 45%, compared to those receiving standard care. This prospective registry plans to enroll 80 …

18 years of age Female Phase N/A
J Jean Michel DUPONT, Dr

Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities

Chromosomal aberrations are major causes of developmental disorders (Intellectual disability (ID), multiple congenital anomalies (MCA), autism spectrum disorders (ASD)) as well as reproductive disorders (RD) in particular gametogenesis defects and recurrent miscarriages. Current first tier genetic investigations for chromosome analysis in clinical settings include karyotyping in case of RD (5 …

years of age All Phase N/A
M Monica G Konstantino, RN

Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care

The purpose of this research study is to learn more about the health outcomes associated with congenital uterine anomalies (CUAs), and the possible environmental and genetic causes of the condition. The researchers plan to investigate whether any cancer associations (with breast, renal, ovarian, vaginal and uterine cancers) exist in females …

13 years of age Female Phase N/A
S Seema Lalani, MD

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering …

1 - 90 years of age All Phase N/A

Microbiome Metabolites and Alcohol in HIV to Reduce CVD RCT

Among people living with HIV, heavy drinking increases the risk of heart disease and death. Studies suggest that alcohol changes the number and kind of bacteria in your gut and these changes increase the risk of heart disease and death. This randomized controlled trial will determine whether a pill containing …

18 - 89 years of age All Phase 2
L Leslie Appiah, MD

Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation

The "Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation" study is open to a subset of patients with disorders of sex development (DSD) which is associated with the risk of malignancy and a high risk of infertility or sterility. For these patients, experimental gonadal tissue cryopreservation is the only fertility preservation …

- 30 years of age All Phase N/A
D Dominique STEPHAN

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 cerebro-spinal arteriovenous malformations) although complications of these can present life-threatening health problems for the mother and her baby. The purpose of this …

18 - 45 years of age Female Phase N/A
Y Yuming Jiao

Clinical Study on Emergency Treatment of Cerebral Arteriovenous Malformation Bleeding

Cerebral arteriovenous malformation (AVM) is the leading cause of brain hemorrhage in young adults, characterized by sudden onset and rapid progression. The hybrid neurosurgical operating room is a diagnostic and therapeutic platform that integrates neurointervention and microneurosurgery, offering advantages such as one-stop rapid treatment and multimodal therapeutic approaches. This study …

18 - 70 years of age All Phase N/A
h hatice adiguzel, PhD

Turkish Version of the BRIEF-Hammersmith Infant Neurological Examination (HINE)

The American Academy of Pediatrics defines high-risk infants as those with preterm birth, special health care needs, family risk factors, and those at risk of early death. Factors such as premature birth, perinatal asphyxia, hypoxic-ischemic encephalopathy (HIE), periventricular leukomalacia (PVL), intraventricular hemorrhage (IVH), chronic lung disease, seizures, meningitis, hyperbilirubinemia, twin/triplet …

3 - 12 years of age All Phase N/A

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