Clinical trials: Congenital Diseases
Iron Deficiencies, Iron Deficiency Anemia
Iron Deficiency in Pediatric Heart Surgery
The prevalence of iron deficiency in pediatric cardiac surgery patients is not very well known. Iron deficiency can lead to anemia, higher transfusion rates and possibly higher complication rates.
- Conditions
- Iron Deficiencies, Iron Deficiency Anemia, Cardiac Surgical Procedures, Congenital Heart Disease in Children
- Trial name
- NCT06276608
- Testing
- Iron status
- Where
- Belgium
- Volunteers
- 300 people
- Sponsor
- Queen Fabiola Children's University Hospital
Mesial Temporal Lobe Epilepsy
AMT-260 Gene Therapy Study in Adults With Unilateral Refractory Mesial Temporal Lobe Epilepsy
The main goals of this clinical study are to learn if AMT-260 is safe and tolerable and works to reduce the frequency of seizures in adults with unilateral mesial temporal lobe epilepsy (MTLE).
- Trial name
- GenTLE (NCT06063850)
- Testing
- AAV9-hSyn1-miGRIK2
- Where
- 18 sites in United States
- Volunteers
- 12 people
- Sponsor
- UniQure Biopharma B.V.
Anomalous Coronary Artery Origin, Anomalous Coronary Artery Arising from the Opposite Sinus
New Patient-specific Functional Assessment of the Anomalous Aortic Origin of Coronary Arteries.
Anomalous Aortic Origin of the Coronary Arteries (AAOCA) is a rare congenital disease that may cause sudden death in young subjects.
- Conditions
- Anomalous Coronary Artery Origin, Anomalous Coronary Artery Arising from the Opposite Sinus, Anomalous Coronary Artery Course, Anomalous Coronary Artery with Aortic Origin and Course Between the Great Arteries
- Trial name
- NECESSARY (NCT05159791)
- Testing
- Invasive coronary blood flow assessment and simulations and fluid dynamic patient specific simulation
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Policlinico S. Donato
Fabry's Disease
Analysis of the Nervous System in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Trial name
- NCT00001491
- Where
- United States
- Volunteers
- 325 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Long QT Syndrome, Channelopathies
Physical Activity and Functional Capacity in Patients With Congenital Long QT Syndrome
Patients with congenital long QT syndrome (LQTS) have traditionally been discouraged from physical activity and competitive sports, although the rate of exercise-related arrhythmic events is considered low.
- Trial name
- CANMOVE (NCT07862491)
- Testing
- Questionnaires, Cardiopulmonary exercise testing, 24-hour Holter monitoring
- Where
- Brazil
- Volunteers
- 120 people
- Sponsor
- University of Sao Paulo
Sickle Cell Disease
Albuminuria Reduction With Renin Angiotensin System Inhibitors in SCA Patients
The prevalence of Sickle Cell Associated Nephropathy (SCAN) is increasing and is a growing concern. Microalbuminuria is detected in the early onset of SCAN.
- Trial name
- RAND (NCT01195818)
- Testing
- RAS Inhibitors
- Where
- France
- Volunteers
- 53 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
Efficacy of an Infrared Visualization Technique for the Identification of the Peripheral Venous Access Site in Patients With Cystic Fibrosis Aged 12 Years and Older
Cystic fibrosis is a rare chronic genetic disease that mainly affects the respiratory tract and the digestive system. Their management includes multi-year intravenous antibiotic treatments and repeated venous sampling.
- Trial name
- MUCOVEINE (NCT04226118)
- Testing
- Vein Illumintion System device
- Where
- 6 sites in France
- Volunteers
- 271 people
- Sponsor
- Hospices Civils de Lyon
Sickle Cell Disease, Sickle Cell Anemia
Microvascular Blood Flow in Sickle Cell Anemia
Sickle cell disease (SCD) is an inherited blood disorder that causes the red blood cells to change their shape from a round shape to a half-moon/crescent or sickled shape.
- Trial name
- NCT01566890
- Testing
- regadenoson infusion with contrast-enhanced ultrasound, contrast-enhanced ultrasound
- Where
- 2 sites in United States
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Versiti Blood Health
Fabry Disease
Lipidomics and Functional Analyses of Platelets in Fabry Disease
This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events.
- Trial name
- NCT02649660
- Where
- 2 sites in Switzerland
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Spital Linth
Epidermolysis Bullosa
Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa
This is a single-center study to investigate the effects of a topical cream on patients 12 years of age and older that have been diagnosed with epidermolysis bullosa.
- Trial name
- NCT02793960
- Testing
- topical BPM31510 3.0% Cream
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Shasa Hu
Cardiac Amyloidosis, Heart Failure With Preserved Ejection Fraction (HFPEF)
AI-based Echocardiography for Detection of Cardiac Amyloidosis
Cardiac amyloidosis is characterized by deposition of misfolded protein in the myocardium causing mainly heart failure symptoms with preserved left ventricular ejection fraction.
- Conditions
- Cardiac Amyloidosis, Heart Failure With Preserved Ejection Fraction (HFPEF), Left Ventricular Hypertrophy
- Trial name
- ORCHESTRA (NCT07529860)
- Testing
- AI-based echocardiogram
- Volunteers
- 200 people
- Sponsor
- Germans Trias i Pujol Hospital
Umbilical Hernia
Taping for Umbilical Hernia
Umbilical hernias in infants are very common and in most cases disappear on their own by school age. If this does not happen, surgery may be necessary. Until then, the umbilical hernia is usually only observed and not treated.
- Trial name
- UHT (NCT07735260)
- Testing
- Taping of the umbilical hernia
- Where
- Switzerland
- Volunteers
- 82 people
- Sponsor
- University Children's Hospital, Zurich
Child, Only, Infant, Newborn, Diseases
Capnography Monitoring in Ventilated Children
End-tidal CO2 measurements in children will be assessed for their accuracy with arterial CO2 measurements.
- Conditions
- Child, Only, Infant, Newborn, Diseases, Critical Illness, ARDS, Human
- Trial name
- NCT04354220
- Testing
- capnography monitoring, arterial blood gas
- Where
- Switzerland
- Volunteers
- 178 people, healthy volunteers welcome
- Sponsor
- Vincenzo Cannizzaro
Hypospadias, Penoscrotal
Preputial Graft Versus Preputial Flap in Treatment of Proximal Hypospadias With Marked Ventral Curvature (a Comparative Study)
Hypospadias is a male congenital anomaly characterized by the abnormally located urethral meatus being displaced along the ventral side of the penis along a line from the tip of glans penis to the perineum.
- Trial name
- NCT06165120
- Testing
- Bracka's repair using preputial graft, STPIF (Staged Transverse Preputial Island Flap) repair using preputial flap
- Where
- Egypt
- Volunteers
- 20 people
- Sponsor
- Sohag University
Cystic Fibrosis, Mucociliary Clearance Defect
Symptom Based Performance of Airway Clearance After Starting Highly Effective Modulators for Cystic Fibrosis (SPACE-CF)
Cystic Fibrosis (CF) is an autosomal recessive disease cause by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) manifesting in multiple organs, the most common cause of morbidity and mortality…
- Trial name
- SPACE-CF (NCT05392855)
- Testing
- Symptom driven performance of airway clearance, Continuous daily performance of airway clearance
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Missouri-Columbia
Lactose Intolerance, Lactose Intolerant
Milk for Diabetes Prevention
Individuals with lactase non-persistence (LNP; determined by a functional variant in the LCT gene [rs4988235, GG genotype]) are susceptible to lactose intolerance in adulthood due to deficiency of lactase, the enzyme which…
- Conditions
- Lactose Intolerance, Lactose Intolerant, Lactase Persistence, Pre-Diabetes
- Trial name
- NCT06513026
- Testing
- Lactose-Containing Milk, Lactose-Free Milk
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Albert Einstein College of Medicine
Hemophilia A
Health Related Quality of Life of Youth and Young Adults With Haemophilia A
Research question: Whether there are the changes in quality of life in patients with haemophilia A after switching from SHL FVIII prophylaxis to efmoroctocog alfa prophylaxis? A 12-month prospective open-label, single-arm…
- Trial name
- RELOQ (NCT04728217)
- Testing
- Efmoroctocog Alfa Injection [Eloctate]
- Where
- Russia
- Volunteers
- 30 people
- Sponsor
- The League of Clinical Research, Russia
Congenital Heart Disease in Children
Outcomes and Health Care Resource Utilization in Pediatric Congenital Heart Disease Patients Undergoing Non-Cardiac Procedures
The incidence of moderate to severe congenital heart disease (CHD) in the United States is estimated to be 6 per 1000 live-born full term infants.
- Trial name
- NCT04604418
- Testing
- No intervention. It is observational
- Where
- 10 sites in United States, Canada
- Volunteers
- 10,000 people
- Sponsor
- Boston Children's Hospital
Atopic Dermatitis
Adjunctive Oral Iron Supplementation in Atopic Dermatitis
The present randomized controlled trial aims to evaluate the effect of adjunctive oral iron supplementation on disease severity and quality of life in adolescents with mild to moderate atopic dermatitis.
- Trial name
- NCT07613190
- Testing
- Oral iron
- Volunteers
- 124 people
- Sponsor
- Cairo University
Autism Spectrum Disorder, Down Syndrome
Video Based Breathing Exercise Rehabilitation
The aim of the study was to investigate the effect of video game-based lung volume increasing training on respiratory mechanics in children with developmental delays.
- Trial name
- NCT06125990
- Testing
- Experimental: Study Group (SGr)
- Where
- Turkey (Türkiye)
- Volunteers
- 18 people
- Sponsor
- Saglik Bilimleri Universitesi
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