Clinical trials: Congenital Diseases
Cardiovascular Diseases, Heart Diseases
Citrulline for Children Undergoing Cardiopulmonary Bypass Surgery
This study will determine the pharmacokinetics and safety of intravenous citrulline given to children undergoing cardiopulmonary bypass for the correction of congenital heart defects.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Heart Defects, Congenital
- Trial name
- NCT00201214
- Testing
- Citrulline
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- Vanderbilt University
Uterine Fibroid, Arteriovenous Malformations
An Observational Study of Radial Access Embolization Procedures Using HydroPearl Microspheres
This registry study is designed to collect data on the procedural success and complication rates in real-world patients undergoing HydroPearl embolization procedures via radial access.
- Conditions
- Uterine Fibroid, Arteriovenous Malformations, Hypervascular Tumors, Benign Prostatic Hyperplasia
- Trial name
- RAVI Registry (NCT04272216)
- Testing
- Treatment with HydroPearl via radial access
- Where
- 6 sites in United States
- Volunteers
- 99 people
- Sponsor
- Terumo Medical Corporation
Cystinosis
The Effect of Exercise on Muscle Dysfunction in Cystinosis
Classification of activity tolerance is of importance in chronic progressive myopathies, not only to better understand functional implications of the disease state itself, but also for purposes of exercise prescription for health…
- Trial name
- NCT04071548
- Testing
- HIIT Exercise
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Stanford University
Congenital Bleeding Disorder, Haemophilia A With Inhibitors
Efficacy of NovoSeven® in Bleeding Prophylaxis in Hemophilia
This trial is conducted in Africa, Asia, Europe, South America, and the United States of America (USA). The purpose of this study is to evaluate the effectiveness of secondary prophylactic treatment with NovoSeven® in haemophilia…
- Conditions
- Congenital Bleeding Disorder, Haemophilia A With Inhibitors, Haemophilia B With Inhibitors
- Trial name
- NCT00108758
- Testing
- activated recombinant human factor VII
- Where
- 37 sites in United States, Argentina and 10 more
- Volunteers
- 23 people
- Sponsor
- Novo Nordisk A/S
Pompe Disease (Late-onset)
Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease
The goals of this study are to determine safety and efficacy with regard to motor function of oral clenbuterol in combination with ERT in subjects with LOPD
- Trial name
- NCT04094948
- Testing
- Clenbuterol
- Where
- United States
- Sponsor
- Duke University
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
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy
Wearable Technology to Assess Gait Function in SMA and DMD
The purpose of this project is to devise instrumented insoles capable of accurately measuring gait at each footfall, over multiple hours in any environment.
- Trial name
- NCT04193085
- Testing
- Observational
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Columbia University
Methylmalonic Acidemia, Propionic Acidemia
Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
The JUMP (Journey to Understand MMA and PA) Study is being conducted by HemoShear Therapeutics and AllStripes, a rare disease online research platform.
- Trial name
- JUMP (NCT05438485)
- Testing
- Registry
- Where
- 3 sites in United States, Canada and 1 more
- Volunteers
- 11 people
- Sponsor
- HemoShear Therapeutics
Fetal Alcohol Spectrum Disorders
Alcohol Use During Pregnancy in Finland According to Meconium Samples
Meconium samples are collected anonymously from newborns in Helsinki University Hospital maternity ward. The study tries to to find how many women continue to use alcohol during the second half of the pregnancy.
- Trial name
- RASMEK21 (NCT04918043)
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hanna Kahila
Non-Hodgkin's Lymphoma
Study of Chiauranib in Relapsed/Refractory Non-Hodgkin's Lymphoma
Chiauranib may stop the growth of tumor cells by blocking Aurora kinase B（Aurora B）、VEGFR/PDGFR/c-Kit、CSF-1R targets. This clinical trial is studying the efficacy and safety of chiauranib works in treating patients with relapsed…
- Trial name
- NCT03074825
- Testing
- Chiauranib
- Where
- China
- Volunteers
- 5 people
- Sponsor
- Chipscreen Biosciences, Ltd.
Phenylketonurias
The Effects of CGMP in Children and Adults With PKU
Randomised controlled trial with a crossover design. For early and continuously treated patients with phenylketonuria (PKU) that are adherent.
- Trial name
- ELEMENT (NCT04076176)
- Testing
- CGMP protein substitute, L-amino acid protein substitute
- Where
- 3 sites in Denmark, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Vitaflo International, Ltd
Fanconi Anemia
TBI Dose De-escalation for Fanconi Anemia
This is a single arm, total body irradiation (TBI) trial. All patients will be prescribed TBI 300 cGy with the goal of evaluating secondary endpoints.
- Trial name
- NCT00352976
- Testing
- Cyclophosphamide, Fludarabine, Total Body Irradiation
- Where
- United States
- Volunteers
- 83 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Hemophilia A, Hemophilia B
An Institutional Pilot Study to Investigate Physical Activity Patterns in Boys With Hemophilia
This pilot project was developed to investigate subjective and objective data related to the patterns of physical activity participation among hemophilia patients (FVIII or FIX) between the ages of 5 and 18 years.
- Conditions
- Hemophilia A, Hemophilia B, Factor VIII Deficiency, Factor IX Deficiency
- Trial name
- HEPS (NCT02199717)
- Testing
- Accelerometer
- Where
- Canada
- Volunteers
- 66 people
- Sponsor
- The Hospital for Sick Children
Developmental Dysplasia of the Hip
Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging
Ultrasound imaging (US), a radiation-free imaging modality, is currently used in diagnosis of developmental dysplasia of the hip (DDH) in infants.
- Trial name
- NCT02796768
- Testing
- 3D US Scanning, 2D US Scanning
- Where
- Canada
- Volunteers
- 75 people
- Sponsor
- British Columbia Children's Hospital
Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy
DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
The main objective of this study is to assess if it is possible, at the end of endocardial voltage mapping, to accurately collect intact cardiomyocytes and to isolate high quality DNA allowing molecular testing of selected genes…
- Trial name
- FA2CM-DVDA (NCT03177018)
- Testing
- Cardiomyocytes collection
- Where
- 2 sites in France
- Volunteers
- 34 people
- Sponsor
- University Hospital, Toulouse
Duchenne Muscular Dystrophy
Motor Imagery in Duchenne Muscular Dystrophy
Motor imagery (MI) can be defined as a dynamic process in which the person is mentally stimulated without performing the given motor movement.
- Trial name
- NCT05559710
- Where
- Turkey (Türkiye)
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Chronic Illness, Hematologic Malignancy
Distracting Through Procedural Pain and Distress
Children with acute and chronic illness undergo frequent, painful, and distressing procedures. This randomized control trial was used to evaluate the effectiveness of guided imagery (GI) vs virtual reality (VR) on the procedural…
- Conditions
- Chronic Illness, Hematologic Malignancy, Bone Marrow Transplant Infection, Oncology
- Trial name
- NCT04892160
- Testing
- Guided Imagery, Virtual Reality
- Where
- 2 sites in United States
- Volunteers
- 67 people
- Sponsor
- Medical College of Wisconsin
Familial LCAT Deficiency
Intravenous ACP-501 for Familial LCAT Deficiency (rhLCAT)
Background: High density lipoprotein (HDL), or good cholesterol, moves cholesterol from the artery walls back to the liver. A blood enzyme known as LCAT maintains HDL levels and helps it remove cholesterol from the body.
- Trial name
- NCT04737720
- Testing
- Recombinant LCAT
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Primary Immunodeficiency Diseases (PID)
Gammagard Liquid and rHuPH20 in PID
The purpose of the study is to develop a subcutaneous treatment option for participants with Primary Immunodeficiency Diseases (PID) that allows an administration of Immune Globulin Intravenous (Human), 10% at the same frequency…
- Trial name
- NCT00814320
- Testing
- Recombinant human hyaluronidase (rHuPH20)+ immune globulin intravenous (IGIV)
- Where
- 14 sites in United States, Canada
- Volunteers
- 89 people
- Sponsor
- Baxalta now part of Shire
Hemophilia A
Trial to Evaluate the Pharmacokinetics and Safety Profile of BAY94-9027 Following Single and Multiple Dose Administration
The purpose of this study is to describe the pharmacokinetics (PK) of BAY94-9027(the test drug). Pharmacokinetics means that we will measure how well the study drug corrects the factor VIII levels in your blood and how long it…
- Trial name
- NCT01184820
- Testing
- BAY94-9027 + Recombinant Factor VIII (Kogenate FS, BAY14-2222), BAY94-9027 + Recombinant Factor VIII (Kogenate FS, BAY14-2222))
- Where
- 4 sites in United States
- Volunteers
- 14 people
- Sponsor
- Bayer
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