Clinical trials: Genetic Diseases
Granuloma, Granulomatous Disease, Chronic
Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
The research goal of this study is to obtain CD34+ hematopoietic stem cells (HSC) from peripheral blood and/or bone marrow, and Mononuclear Cells (lymphocytes and monocytes), and granulocytes (grans) from peripheral blood that…
- Conditions
- Granuloma, Granulomatous Disease, Chronic, Leukocyte Disease, Genetic Disease, X-Linked
- Trial name
- NCT00001405
- Where
- United States
- Volunteers
- 850 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Eczema, Dermatitis
Effects of Treatments on Atopic Dermatitis
Background: Atopic dermatitis, or eczema, is a chronic skin disorder. Patients sometimes have infections with S. aureus bacteria.
- Conditions
- Eczema, Dermatitis, Skin Diseases, Genetic, Dermatitis, Atopic
- Trial name
- NCT01631617
- Testing
- Trimethoprim/sulfamethoxazole (TMP/SMZ), Cephalexin, Doxycycline
- Where
- United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Genetic Eye Disease
Genetics of Inherited Eye Disease
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes.
- Trial name
- NCT02471287
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Pancreas Cancer, Pancreas Cyst
Pancreatic Cancer Early Detection Consortium
The purpose of the Pancreatic Cancer Early Detection (PRECEDE) Consortium is to conduct research on multiple aspects of early detection and prevention of pancreatic ductal adenocarcinoma (PDAC) by establishing a multisite cohort…
- Conditions
- Pancreas Cancer, Pancreas Cyst, Pancreatic Ductal Adenocarcinoma, Genetic Predisposition
- Trial name
- PRECEDE (NCT04970056)
- Where
- 62 sites in United States, Australia and 10 more
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Arbor Research Collaborative for Health
Ehlers-Danlos Syndromes (EDS)
CLINICAL AND BIOLOGICAL DATABASE OF PATIENTS WITH NON-VASCULAR EHLERS-DANLOS SYNDROMES
The Rare Disease Reference Center (CRMR) for Non-Vascular Ehlers-Danlos Syndromes (NV-EDS) at the Raymond Poincaré University Hospital provides diagnosis and care for patients with non-vascular Ehlers-Danlos syndrome.
- Trial name
- BASE SED-NV (NCT07899489)
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Ehlers-Danlos Syndromes (EDS)
Evaluation of the Role of Serum Tenascin-X Levels in the Diagnosis of Hypermobile Ehlers-Danlos Syndrome
Thirteen types of EDS have been described based on their clinical manifestations and genetic backgrounds. Their diagnosis relies on personal and family medical history, together with established clinical criteria.
- Trial name
- DIAGNOSEDh (NCT07899554)
- Testing
- Blood sampling
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Genetic Disease
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown.
- Trial name
- NCT02450851
- Where
- 33 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Neurofibromatosis 1, Noonan Syndrome
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful.
- Conditions
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome
- Trial name
- NCT05361811
- Testing
- Waitlist, ACT Intervention
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Familial Mediterranean Fever (FMF), Autoinflammation
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.
- Conditions
- Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever, Fever
- Trial name
- NCT00001373
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Genetic Predisposition to Disease, Breathing, Mouth
Expression of Genes Relating Hypertension and Efficacy of 4-7-8 Breathing Control on Reducing Blood Pressure
This study consists of two sub-studies. Study 1 investigates gene expression related to the development of hypertension in Thailand, and Study 2 examines the effectiveness of the 4-7-8 breathing technique in reducing blood…
- Trial name
- NCT07018128
- Testing
- Study 2: deep breathing, Study 2: 4-7-8 breathing, Study 2: slow breathing with device
- Where
- Thailand
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Burapha University
Genetic Predisposition to Disease, Healthy Volunteer
Effects of Sirolimus on Asymptomatic ApoE4 Carriers
Alzheimer's disease is a devastating neurodegenerative disease characterized by accumulation of clumps (also called plaques) and bundles of fibers (also called tangles) in the brain, for which there is currently no cure.
- Conditions
- Genetic Predisposition to Disease, Healthy Volunteer, APOE-4 Positive
- Trial name
- NCT07728175
- Testing
- Sirolimus (rapamycin)
- Where
- United States
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child)
Inherited Diseases, Caregiving, and Social Networks
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of…
- Conditions
- Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders, Inherited Metabolic Disorders (Inborn Errors of Metabolism)
- Trial name
- NCT01498263
- Where
- 2 sites in United States
- Volunteers
- 682 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Diabetes, Hypercholesterolaemia
The Effect of Providing Genetic Risk Information on Lifestyle Behaviors in African Americans
Cardiovascular disease (CVD) is a major and persistent health disparity for African Americans. Linking GAINS is a randomized pilot and feasibility study designed to evaluate whether receiving genetic risk information early in a…
- Conditions
- Diabetes, Hypercholesterolaemia, Hypertension, Obesity Type 2 Diabetes Mellitus
- Trial name
- LINKING GAINS (NCT07833384)
- Testing
- Color Genomics Genetic Testing Panels
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Pennington Biomedical Research Center
Mild Cognitive Impairment (MCI), Alzheimer Dementia (AD)
Predicting Pre-dementia
The goal of this observational study is to learn how well a multimodal "Progression and Risk" (PR) model can predict and stage early mild cognitive impairment (MCI) due to Alzheimer's disease in cognitively normal or very mildly…
- Conditions
- Mild Cognitive Impairment (MCI), Alzheimer Dementia (AD), Alzheimer Disease (AD), APOE-4 Positive
- Trial name
- NCT07516119
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Prevention Research Consortium Corp.
Immunology, Allergy
Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National Cohort
The major role of human genetic factors in the immune response to infections is now well established, particularly for viral infections.
- Conditions
- Immunology, Allergy, Genetic Diseases, Infectious Diseases
- Trial name
- COVIFERON (NCT06762002)
- Testing
- blood sample
- Where
- 9 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Mental Health, Child Wellbeing
Generation Victoria Cohort 2020s: A Statewide Longitudinal Cohort Study of Victorian Children and Their Parents
Generation Victoria (GenV) is a longitudinal, population-based study of Victorian children and their parents that will bring together data on a wide range of conditions ,exposures and outcomes.
- Conditions
- Mental Health, Child Wellbeing, Infant Health, Child Health
- Trial name
- GenV (NCT05394363)
- Where
- Australia
- Volunteers
- 150,000 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute