Clinical trials: Vascular Anomaly
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Anemia, Sickle Cell, Sickle Cell Disease
Preventing Sickle Cell Kidney Disease
Untreated hypertension and renal injury are risk factors for increased morbidity and mortality in sickle cell disease, yet early markers of progressive disease have not been identified and therapies to prevent the development of…
- Conditions
- Anemia, Sickle Cell, Sickle Cell Disease, Kidney Disease, Hypertension
- Trial name
- NCT02373241
- Testing
- Losartan
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura
Longitudinal Cohort of Thrombosis and Hemostasis Diseases
This is a multicenter, prospective, longitudinal, observational cohort study to investigate thrombosis and hemostasis diseases in Chinese patients.
- Conditions
- Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura, Hemophilia A, Acquired, Disseminated Intravascular Coagulation
- Trial name
- NCT06727669
- Where
- 5 sites in China
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Peking University People's Hospital
Intracerebral Hemorrhage, CAA - Cerebral Amyloid Angiopathy
MRI-markers to Monitor Small Vessel Disease Dynamics in the Prognosis of Small Vessel Disease-associated, Cerebrovascular Events
This is a nested cohort study in the PRO-SVD cohort. Small vessel disease is a chronic disease and is thought to progress over time.
- Conditions
- Intracerebral Hemorrhage, CAA - Cerebral Amyloid Angiopathy, Cerebral Small Vessel Diseases
- Trial name
- MRI-PRO-SVD (NCT05773235)
- Testing
- Combined 3- and 7 Tesla-MRI
- Where
- Switzerland
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Hereditary Angioedema Type I and II
Global Registry to Gather Data on Natural History of Patients With Hereditary Angioedema Type I and II
The objective of this international hereditary angioedema (HAE) register is to collect homogeneous clinical and laboratory data on patients with HAE type I and II gathering better information on the natural course of the disease…
- Trial name
- HGR (NCT03828279)
- Testing
- functional and antigenic C1 inhibitor
- Where
- Italy
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- HAE Global Registry Foundation
Congenital Heart Disease
Assessing Neurodevelopment in Congenital Heart Disease.
Congenital heart disease (CHD) is the most prevalent congenital malformation affecting 1 in 100 newborns per year. Children with CHD are a known risk population for brain injury, with neurodevelopmental alterations shown over…
- Trial name
- NEUROHEART (NCT02996630)
- Testing
- Sonography, Magnetic Resonance Imaging, Bailey Test
- Where
- Spain
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Hyperlipidemia, Familial Combined, Coronary Disease
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD).
- Trial name
- NCT00365235
- Where
- Mexico
- Volunteers
- 998 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Retinopathy of Prematurity, Diabetic Retinopathy
Optical Coherence Tomography Angiography (OCT-A) in Children (≥ 6 <14 Years of Age)
Comparison of OCTA to conventional imaging modalities for the diagnosis of eye diseases in children
- Trial name
- OCTAC (NCT03399825)
- Testing
- OCT-A
- Volunteers
- healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Pulmonary Hypertension, Heart Failure
Frailty in Children With Cardiac Disease
Frailty is a complex biologic syndrome of diminished physiologic reserve that leads to decreased resistance to stressors and is associated with adverse health outcomes.
- Conditions
- Pulmonary Hypertension, Heart Failure, Single Ventricle
- Trial name
- NCT02999438
- Testing
- Actigraph to check activity levels at home
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
Fabry Disease, Healthy
PET Scans in Normal Volunteers and Patients With Fabry Disease
This study will determine the rate of sugar metabolism in the brain of patients with Fabry disease, a genetic disease of abnormal lipid metabolism.
- Trial name
- NCT00005111
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Arteriovenous Malformation
Genetics of Arteriovenous Malformations
The goal of this study is to identify genetic alterations resulting in the development of arteriovenous malformation (AVM) in the central nervous system.
- Trial name
- NCT02445430
- Where
- United States
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- St. Joseph's Hospital and Medical Center, Phoenix
Ehlers-Danlos Syndrome
Registry of Ehlers-Danlos Syndrome
RED is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- RED (NCT04133272)
- Where
- Italy
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Luca Sangiorgi
Elasticum, Incomplete Pseudoxanthoma
The Characteristics of Backscattering With Depth in the Progression of Keratoconus
To investigate the variation in backscattering with depth between forme fruste keratoconus (FFKC), keratoconus, and normal eyes; to determine the backscattering changes in the characteristics of keratoconus progression; and to…
- Trial name
- NCT06050629
- Where
- China
- Volunteers
- 223 people, healthy volunteers welcome
- Sponsor
- Tianjin Eye Hospital
Telangiectasia, Hereditary Hemorrhagic
Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia
We will address coagulation parameters in hereditary haemorrhagic telangiectasia (HHT) compared to controls.
- Trial name
- NCT00230659
- Testing
- Blood sample to be taken.
- Where
- United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Oculocerebrorenal Syndrome
Study of the Pathophysiological Mechanisms Involved in Bleeding Events
Lowe syndrome is associated with mutations in the OCRL1 gene, which encodes OCRL1, a phosphatidylinositol-4, 5-bisphosphate (PtdIns(4, 5)P (2))5-phosphatase.
- Trial name
- LOWE (NCT01314560)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Mitochondrial Disorders, Mitochondrial Disease
Tissue Sample Study for Mitochondrial Disorders
The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA).
- Conditions
- Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer
- Trial name
- NCT01803906
- Where
- United States
- Volunteers
- 6,900 people, healthy volunteers welcome
- Sponsor
- Columbia University
Vascular Malformations
Development of a Specific Scale of Life'Quality for Children With Low-flow Vascular Malformations
The low-flow malformations include venous and lymphatic malformations. The malformation often affects the skin and can extend deep to the muscles and bone, as well as to deep organs.
- Trial name
- MVFL (NCT03440827)
- Testing
- Focus Group
- Where
- 3 sites in France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Sickle Cell Disease, Cerebral Stroke
Cerebrovascular Reactivity Measurements With High-Density Diffuse Optical Tomography
The purpose of the study protocol is to identify imaging biomarkers for brain tissue under high metabolic stress at risk for permanent injury.
- Trial name
- HDDOT CVR (NCT07776444)
- Testing
- Carbon Dioxide
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Arteriovenous Fistula
Color Doppler Ultrasonography in Prediction of Arteriovenous Fistula Maturation in Hemodialysis Patients
The transplant is the definitive treatment of renal insufficiency, in our days. While waiting for it, the arteriovenous fistula surgery is standard procedure.
- Trial name
- NCT03171701
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assiut University
Hemophilia A, Hemophilia A, Severe
Hemophilia A Research Program
This study longitudinally observes the intergenerational (mother-child) continuum in hemophilia A from pregnancy through early childhood.
- Conditions
- Hemophilia A, Hemophilia A, Severe, Factor VIII (FVIII), FVIII Deficiency
- Trial name
- HARP (NCT07414511)
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Washington