Clinical trials: Congenital Malformation
Congenital Malformations
Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).
- Trial name
- CARTOGEN-N (NCT07370792)
- Testing
- blood sample
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Céline PEBREL-RICHARD
Rare Diseases, Amyloidosis
Institutional Registry of Rare Diseases
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).
- Conditions
- Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis
- Trial name
- NCT06573723
- Where
- Argentina
- Volunteers
- 380 people
- Sponsor
- Hospital Italiano de Buenos Aires
Microtia, Congenital, Microtia
Evaluation of the Auryzon™ EAR 2.0 System in Ear Reconstruction
This study aims to improve surgical outcomes for children and young adults with ear differences severe secondary to congenital conditions (like microtia, a condition where the ear is underdeveloped), trauma (such as dog bites)…
- Conditions
- Microtia, Congenital, Microtia, Microtia-Anotia, Ear Deformities, Acquired
- Trial name
- NCT07154667
- Testing
- Use of AuryzoN™ EAR 2.0 device, Hand carving
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Nemours Children's Clinic
Foetus With Congenital Pulmonary Malformation
Risk Factors of Neonatal Respiratory Distress for Newborns With Prenatally Diagnosed Congenital Lung Malformations
This research focuses on lung malformations detected in fetuses during prenatal ultrasound exams. Pathogenic mechanisms of these rare malformations are poorly understood.
- Trial name
- MALFPULM (NCT02352207)
- Testing
- identification of a pulmonary malformation in the fetus
- Where
- France
- Volunteers
- 436 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Congenital Hemangioma, Hemangioendothelioma
A Study to Evaluate How Safe and Effective is the Mixture of Lipiodol® Ultra Fluid and Glue When Used for Embolization Procedures
This was a multicenter phase IV Post-Marketing Study. The study is designed to investigate the safety of Lipiodol® Ultra Fluid in association with surgical glues used according to each site medical practice of vascular…
- Conditions
- Congenital Hemangioma, Hemangioendothelioma, Angiosarcoma, Arteriovenous Malformations
- Trial name
- NCT02625389
- Testing
- Lipiodol Ultra Fluid with surgical glues
- Where
- 16 sites in India
- Volunteers
- 132 people
- Sponsor
- Guerbet
Congenital Heart Disease, Congenital Heart Defect
Nitric Oxide Effect on Brain and Kidney in Pediatric Patients Undergoing Cardiopulmonary Bypass
The goals of this study are: 1. To evaluate the neuroprotective effect of nitric oxide by measuring glial fibrillary acid protein (GFAP) before and after surgery.
- Conditions
- Congenital Heart Disease, Congenital Heart Defect, Congenital Heart Malformations
- Trial name
- NCT05101746
- Testing
- Nitric Oxide (NO) 20 part per million (ppm), Standard of care cardiopulmonary bypass
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Vanderbilt University Medical Center
Congenital Cystic Adenomatoid Malformation (CCAM)
Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations
The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.
- Trial name
- MAKP (NCT01732185)
- Testing
- Patient
- Where
- France
- Volunteers
- 45 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Genetic Disease, Multiple Malformation
Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases.
- Conditions
- Genetic Disease, Multiple Malformation, Congenital Malformation
- Trial name
- NCT02551081
- Where
- China
- Volunteers
- 2,000 people
- Sponsor
- Children's Hospital of Fudan University
Malformation, Female Infertility
Surgical and Obstetric Outcomes in Patients With Uterine Malformations Undergoing Hysteroscopic Corrective Treatment
The goal of this observational cohort study is to learn if hysteroscopic correction can improve reproductive outcomes in women with uterine malformations.
- Conditions
- Malformation, Female Infertility, Hysteroscopy Surgery
- Trial name
- MAL_CO (NCT06610864)
- Where
- Italy
- Volunteers
- 300 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Arteriovenous Malformations, Cerebral, Unruptured Brain Arteriovenous Malformation
Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations
A new endovascular route for the treatment of brain AVMs may be possible in some cases: Trans-Venous Embolization (TVE). The technique uses microcatheters to navigate to the draining veins of AVM, to reach and then fill the AVM…
- Conditions
- Arteriovenous Malformations, Cerebral, Unruptured Brain Arteriovenous Malformation, Ruptured Brain Arteriovenous Malformation
- Trial name
- TATAM (NCT03691870)
- Testing
- Standard Trans-Arterial Embolization (TAE), Trans-Venous Embolization (TVE)
- Where
- 9 sites in Canada, France
- Volunteers
- 77 people
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Cystic Fibrosis, Lung Inflammation
TAAI Erasmus Research Initiative to Fight CF: Monitoring Inflammation in CF Lung Disease Into a New Era
Progressive destruction of the lungs is the main cause of shortened life expectancy in people with cystic fibrosis (pwCF). Inflammation and respiratory infections play a key role in CF lung disease.
- Conditions
- Cystic Fibrosis, Lung Inflammation, Lung Infection, Lung Disease; Cystic
- Trial name
- TERRIFIC-MILE (NCT05752019)
- Where
- Netherlands
- Volunteers
- 103 people
- Sponsor
- Erasmus Medical Center
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
Congenital Portosystemic Shunt, CPSS (Congenital Portosystemic Shunt)
International Registry of Congenital Portosystemic Shunt (IRCPSS)
Congenital Portosystemic Shunt (CPSS) is a rare condition important by the multiplicity and severity of associated complications.
- Trial name
- IRCPSS (NCT06041906)
- Testing
- Shunt Closure
- Where
- 26 sites in United States, Australia and 14 more
- Volunteers
- 500 people
- Sponsor
- Prof. Valérie Mc Lin
Port-Wine Stains (Capillary Malformations)
Comparative of Sequential Application of Pulsed Dye Laser and Potassium-titanyl-phosphate Laser Treatment for Capillary Malformations Versus Single Application
This prospective, non-randomized study aims to evaluate the efficacy and tolerability of treating port-wine stains (capillary malformations) using pulsed dye laser (PDL), potassium titanyl phosphate (KTP) laser, or a sequential…
- Trial name
- NCT07015073
- Testing
- Pulsed dye laser (PDL), Potassium titanyl phosphate (KTP) laser, Sequential KTP + PDL laser treatment
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Carpometacarpal (CMC) Joint Arthritis, Ganglion Cyst
The Correlation of Clinical and Ultrasonographic Findings in Dorsoradial Wrist Pain Patients: Cross Sectional Study
This study aims to investigate the correlation between ultrasonographic and clinical findings in dorsoradial wrist pain. There are several etiologies for dorsoradial wrist pain, including carpometacarpal joint arthritis, De…
- Conditions
- Carpometacarpal (CMC) Joint Arthritis, Ganglion Cyst, De Quervain Disease, Radial Neuropathy
- Trial name
- NCT06980779
- Testing
- ultrasonographic examination
- Where
- Turkey (Türkiye)
- Volunteers
- 45 people
- Sponsor
- Fatih Sultan Mehmet Training and Research Hospital
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Antenatal Congenital Malformations
Comparison of the Non-invasive Approach and Fetal Exome Sequencing in Prenatal Diagnosis When Fetal Ultrasound Signs Are Discovered
The discovery of congenital malformations and/or non-specific signs by ultrasound (5% of pregnancies) represents a real medical challenge.
- Trial name
- DPNI-Exome (NCT05182242)
- Testing
- Collection of clinical data, Collection of samples, Questionnaires
- Where
- France
- Volunteers
- 75 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Congenital Malformations
Maternal Use of Antibiotics and the Risk of Congenital Malformations
Antibiotics are widely used during pregnancy to prevent or treat infections, yet concerns remain regarding their fetal safety. Drawing on data from spontaneous reporting databases and cohort studies, this study aims to explore…
- Trial name
- NCT06770465
- Testing
- Different categories of antibiotics
- Where
- China
- Volunteers
- 850,000 people
- Sponsor
- West China Hospital
Sleep Apnea Syndromes in Children, Obesity in Children
Overview: Use of Respiratory Support At Home in Children
the primary outcome is to describe the perceived success of the use of the respiratory support from the parent's point of view
- Conditions
- Sleep Apnea Syndromes in Children, Obesity in Children, Bronchopulmonary Dysplasia (BPD), Neuromuscular Disease
- Trial name
- ELIPSE (NCT06692660)
- Where
- 2 sites in France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Grenoble
Vascular Anomaly, Generalized Lymphatic Anomaly
Identification of Biomarkers for Patients with Vascular Anomalies
The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study.
- Conditions
- Vascular Anomaly, Generalized Lymphatic Anomaly, Kaposiform Hemangioendothelioma, Kaposiform Lymphangiomatosis
- Trial name
- NCT03001180
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati