Clinical trials: Genetic Conditions
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
Invasive Streptococcal Infection, Invasive Group A Streptococcal Disease
Genetic Susceptibility to Severe Streptococcal Infections
Invasive bacterial infection is a dangerous but relatively uncommon disease where bacteria spread deep into the body causing diseases like blood poisoning ('bacteraemia'), pneumonia, meningitis and others.
- Conditions
- Invasive Streptococcal Infection, Invasive Group A Streptococcal Disease, Invasive Group B Streptococcal Disease, Necrotising Fasciitis
- Trial name
- NCT01911572
- Where
- United Kingdom
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
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
Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM)
AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA
The goal of this observational and diagnostic study is to develop and validate an artificial intelligence assisted approach for coronary computer tomography angiography-(CCTA)-based screening and diagnosis of cardiomyopathies in…
- Conditions
- Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy
- Trial name
- Atlantis (NCT06748261)
- Testing
- CCTAI model
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Zhongshan Hospital
Obesity, Childhood
Food Genetics Behavior Study
A genetic risk for obesity does not always translate to the development of obesity among children, which points to the presence of risk-modifying factors that likely relate to energy balance behaviors as key behavioral drivers.
- Trial name
- FOODIE (NCT05783765)
- Testing
- Heightened Drive to Eat
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Sepsis
Algorithm for Predicting the Unfavorable Course of Sepsis in Children
A comprehensive strategy will be used to investigate the relationship and correlation between 4 diagnostically significant markers relevant for early diagnosis and prediction of complications and death in the development of…
- Trial name
- NCT05908162
- Testing
- Bood leukocyte subsets
- Where
- Belarus
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- The Republican Research and Practical Center for Epidemiology and Microbiology
Leukemia
Genetic Study of Chronic Lymphocytic Leukemia Families
The goal of this research is to identify genes that may be related to the risk of developing CLL. Objectives: The objective of this study to investigate possible candidate susceptibility genes for familial chronic lymphocytic…
- Trial name
- NCT00503256
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies
Genetic Disease Gene Identification
This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips.
- Conditions
- Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia
- Trial name
- NCT00916903
- Where
- United States
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- State University of New York - Upstate Medical University
Overweight, Infant, Overweight and Obesity
Lille Study for Childhood Health Promotion
Obesity could be avoided but once declared it become a chronic disease with numerous health complications, including cardiovascular and metabolic diseases, cancers, and finally a loss of life expectancy.
- Conditions
- Overweight, Infant, Overweight and Obesity, Overweight, Childhood
- Trial name
- ELIPSE (NCT05121090)
- Testing
- Educational program
- Where
- France
- Volunteers
- 460 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Melanoma, Skin Cancer
A Model for Genetic Susceptibility: Melanoma
The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one…
- Trial name
- NCT00591500
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,082 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Hyperbilirubinemia, Jaundice
Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia
The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia to patients who never developed a significant bilirubin level.
- Trial name
- NCT00383318
- Testing
- Gene mutation sample
- Where
- United States
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Pediatrix
Parkinson Disease, PD
Genetic Characterization of Parkinson's Disease
This study will explore the risks and causes of Parkinson's disease, a chronic progressive nervous system disorder. Patients typically have tremors, muscle weakness and a shuffling gait.
- Conditions
- Parkinson Disease, PD, Movement Disorder, Healthy Volunteer
- Trial name
- NCT00105131
- Where
- United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Sickle Cell Disease, Kidney Injury
Acute Kidney Injury in Patients With Sickle Cell Disease
Patients with sickle cell disease may be at risk for acute kidney injury (AKI)during sickle cell crisis (pain or acute chest syndrome).
- Conditions
- Sickle Cell Disease, Kidney Injury, Kidney Diseases, Kidney Disease, Chronic
- Trial name
- NCT03105271
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Healthy, Hypertrophic Cardiomyopathy
Investigation Into the Use of Ultrasound Technique in the Evaluation of Heart Disease
The human heart is divided into four chambers. One of the four chambers, the left ventricle, is the chamber mainly responsible for pumping blood out of the heart into the circulation.
- Conditions
- Healthy, Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
- Trial name
- NCT00001632
- Where
- United States
- Volunteers
- 195 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Waldenstrom Macroglobulinemia, Chronic Lymphocytic Leukemia
Clinical, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Hematologic Cancer
Background: Individuals may be prone to develop blood or lymph node cancers (leukemia or lymphoma) for a variety of reasons, including genetic predisposition to these cancers, environmental exposures or other medical conditions.
- Conditions
- Waldenstrom Macroglobulinemia, Chronic Lymphocytic Leukemia, Hodgkin Disease, NonHodgkin Lymphoma
- Trial name
- NCT00039676
- Where
- 2 sites in United States
- Volunteers
- 1,836 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cannabis Use, Neurocognitive Dysfunction
Prospective Evaluation on Cognitive Function and Its Associated Genetic Vulnerability in Cannabis Users
Most of the studies assessing Cannabis Use Disorder (CUD) and neurocognitive functions are cross-sectional without examining the longitudinal changes in neurocognitive function at a within-subject level with respect to the…
- Conditions
- Cannabis Use, Neurocognitive Dysfunction, Genetic Predisposition
- Trial name
- SToP-C_PeCoG (NCT04373525)
- Testing
- Genome analysis
- Where
- Hong Kong
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Chronic Obstructive Pulmonary Disease
Genetic Polymorphism in Matrix Metalloproteinase 9 in Chronic Obstructive Pulmonary Disease in Sohag University Hospital.
Chronic obstructive pulmonary disease (COPD) is a heterogeneous and complex disease with multiple clinical presentations or phenotypes and remains a highly prevalent condition, causing significant morbidity and mortality…
- Trial name
- NCT06503315
- Where
- Egypt
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Sohag University