Clinical trials: Congenital Anomalies
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pregnancy at Increased Risk of Fetal Congenital Anomalies
Transabdominal Versus Transvaginal Ultrasound at 9-14 Weeks in High-Risk Pregnancies
This prospective observational comparative study aims to compare the visualization success rate (VSR) of transabdominal ultrasound (TAUS) and transvaginal ultrasound (TVUS) in high-risk singleton pregnancies between 9+0 to…
- Trial name
- NCT07883850
- Where
- Egypt
- Volunteers
- 200 people
- Sponsor
- Mohamed Mahrous Ahmed
Congenital Mullerian Duct Anomaly
Implantation Of Vaginal Construct For Patients With Vaginal Aplasia
In this Phase 1, single site, clinical trial, Vulvar/vaginal Smooth muscle cells (SMC) and Epithelial Cells (EPC) are isolated from autologous patient's biopsy
- Trial name
- TEV (NCT05675722)
- Testing
- biologic vaginal-construct implantation
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Wake Forest University Health Sciences
Pulmonary Valve Insufficiency, Complex Congenital Heart Defect
ALTERRA Post-Approval Study
This study will monitor device performance and outcomes in subjects undergoing implantation of the Edwards SAPIEN 3 Transcatheter Pulmonary Valve System with Alterra Adaptive Prestent in the post-approval setting
- Conditions
- Pulmonary Valve Insufficiency, Complex Congenital Heart Defect, Tetralogy of Fallot, Pulmonary Regurgitation
- Trial name
- NCT05378386
- Testing
- Edwards Alterra Adaptive Prestent with SAPIEN 3 Transcatheter Pulmonary Valve System
- Where
- 24 sites in United States, Israel
- Volunteers
- 150 people
- Sponsor
- Edwards Lifesciences
Congenital Heart Disease, Tetrology of Fallot
Harmony TPV Post-Approval Study
The purpose of this study is to characterize the functionality of transcatheter implantation of the Medtronic Harmony Transcatheter Pulmonary Valve (TPV) achieved by real-world implanters.
- Conditions
- Congenital Heart Disease, Tetrology of Fallot, RVOT Anomaly, Pulmonary Regurgitation
- Trial name
- NCT05077774
- Testing
- Harmony TPV System
- Where
- 20 sites in United States, Canada
- Volunteers
- 174 people
- Sponsor
- Medtronic Cardiovascular
Birth Defects, Multiple Congenital Anomaly
Genetic Inclusion by Virtual Evaluation
This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving…
- Conditions
- Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders
- Trial name
- GIVE (NCT05318222)
- Testing
- Whole genome sequencing (WGS)
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Neonatal Patients Undergoing Major Non-cardiac Surgery, Congenital Anomaly
Neonatal Enhanced Recovery After Surgery (ERAS) Outcomes Study
The goal of this observational study is to improve the way newborn babies are cared for before, during, and after major surgery. Surgery can be very stressful on a baby's body.
- Trial name
- NEO (NCT07771478)
- Testing
- Pre-nERAS Guideline Implementation Intervention, Multifaceted Implementation of nERAS Guideline Intervention
- Where
- 3 sites in Canada, United Kingdom
- Volunteers
- 400 people
- Sponsor
- The Hospital for Sick Children
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
Congenital Anomalies, Mendelian Disorders
Evaluating Prenatal Exome Sequencing Study
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies…
- Conditions
- Congenital Anomalies, Mendelian Disorders, Genetic Diseases, Inborn
- Trial name
- EPES (NCT05290701)
- Where
- Netherlands
- Volunteers
- 235 people
- Sponsor
- Leiden University Medical Center
PICC Line Placement, Vessels; Anomaly
Image-Guided Central Catheter Insertion With Concurrent Assessment of Vascular Wall Integrity
The insertion of peripherally inserted central catheters (PICCs) represents a minimally invasive and safe method for establishing long-term central venous access in patients requiring prolonged intravenous therapy, including…
- Trial name
- NCT07466472
- Volunteers
- 80 people
- Sponsor
- University Medical Centre Ljubljana
PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, zovegalisib (RLY-2608), in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations…
- Conditions
- PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations, Vascular Malformations, PIK3CA Mutation
- Trial name
- NCT06789913
- Testing
- RLY-2608
- Where
- 40 sites in United States, Australia and 7 more
- Volunteers
- 277 people
- Sponsor
- Relay Therapeutics, Inc.
Malaria in Pregnancy, Pregnancy Related
MiMBa Pregnancy Registry
The MiMBa (Malaria in Mothers and Babies) Pregnancy Registry aims to generate robust evidence on the safety of a range of antimalarials when used in pregnancy, particularly in the first trimester.
- Conditions
- Malaria in Pregnancy, Pregnancy Related, Congenital Anomaly
- Trial name
- NCT04825782
- Where
- 2 sites in Burkina Faso, Kenya
- Volunteers
- 15,391 people, healthy volunteers welcome
- Sponsor
- Liverpool School of Tropical Medicine
Congenital Anomalies of the Kidney and Urinary Tract, CAKUT
Patterns of CAKUT in Children at Sohag University Hospital
This is an observational study conducted at Sohag University Hospital to assess the clinical presentation, associated anomalies, and short-term outcomes of children diagnosed with Congenital Anomalies of the Kidney and Urinary…
- Conditions
- Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, Congenital Kidney Disease
- Trial name
- CAKUT - SUH (NCT07729566)
- Testing
- Observational follow-up
- Where
- Egypt
- Volunteers
- 100 people
- Sponsor
- Marina abd El-Malak Ibrahim
Amputation, Wounds and Injuries
Human Penile Allotransplantation
Injuries to the genitalia are of concern to the military with emphasis placed on the surgical reconstruction and psychological health of these Wounded Warriors.
- Conditions
- Amputation, Wounds and Injuries, Amputation, Traumatic, Urologic Surgical Procedures, Male
- Trial name
- NCT02395497
- Testing
- Monoclonal Antibody (Humanized Anti-CD52), Tacrolimus, Penile Allotransplantation
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Johns Hopkins University
Ovary; Anomaly, Infertility, Female
Autologous Platelet-Rich Plasma Intra-ovarian Infusion in Poor Responders
Autologous PRP intra ovarian infusion may improve ovarian response, patients' hormonal profile as well as fresh embryo transfer (ET)-ICSI cycles' outcome in patients presenting with Poor Ovarian Response (POR).
- Trial name
- PRP (NCT03937661)
- Testing
- PRP
- Where
- Greece
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Genesis Athens Clinic
Poor Response to Ovulation Induction, Infertility, Female
Autologous Platelet Rich Plasma Intraovarian Infusion for Poor Responders
Autologous platelet rich plasma (PRP) intraovarian infusion may improve ovarian response to controlled ovarian stimulation as well as the hormonal profile of poor ovarian response infertile women subjected to intracytoplasmic…
- Conditions
- Poor Response to Ovulation Induction, Infertility, Female, Ovarian Insufficiency, Ovarian Failure
- Trial name
- PRPPOR (NCT05181748)
- Testing
- Autologous platelet rich plasma
- Where
- Greece
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Genesis Athens Clinic
Congenital Uterine Anomaly
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.
- Trial name
- NCT04661072
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Yale University
Cleft Lip, Nose; Anomaly
Outcome of Alar Base Support in Unilateral Secondary Cleft Lip and Nasal Deformity Repair With Dermal Roll Flap
Dermal Roll flap for alar base support
- Conditions
- Cleft Lip, Nose; Anomaly, Repair, Flap Design
- Trial name
- Dermal Roll (NCT07624643)
- Testing
- surgery
- Where
- Pakistan
- Volunteers
- 45 people
- Sponsor
- King Edward Medical University
Ovary; Anomaly
Transvaginal Ultrasound and Photoacoustic Imaging of Ovary
This study is being conducted to validate if photoacoustic imaging potentially reduces benign surgeries without compromising cancer detection sensitivity.
- Trial name
- NCT04178018
- Testing
- Photoacoustic imaging, Ultrasound
- Where
- United States
- Volunteers
- 185 people
- Sponsor
- Washington University School of Medicine
Chronic Kidney Disease, Proteinuria
A Smart Phone Application to Improve Adoption of the 2024 Kidney Disease Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) Guidelines
The goal of this study is to establish whether use of a digital intervention can improve adherence and alignment with the Kidney Disease: Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) 2024 Guidelines.
- Conditions
- Chronic Kidney Disease, Proteinuria, Blood Pressure Control, Congenital Anomalies of the Kidneys and Urinary Tract
- Trial name
- NCT07561957
- Testing
- Use of an electronic digital Application
- Where
- 2 sites in Ireland
- Volunteers
- 80 people
- Sponsor
- St. James's Hospital, Ireland