Clinical trials: Genetic Conditions, open to volunteers
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
Breast Cancer Risk, Cardiovascular Disease Risk
The RISC Registry--Risk Informed Screening Registry
Chronic diseases such as heart disease, cancer, and diabetes are the leading causes of death and disability in the United States. Six in ten adults have one chronic disease; 4 in 10 have two or more.
- Conditions
- Breast Cancer Risk, Cardiovascular Disease Risk, Cardiometabolic Risk, Diabetes
- Trial name
- RISC (NCT05848856)
- Testing
- Breast Cancer, Cardiometabolic, Cardiovascular Risk Screening and Follow up
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Precision Health Equity Initiative
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
Psoriasis (PsO), Vitiligo Vulgaris
Evaluation of Stigma Toward Patients With Alopecia Areata, Atopic Dermatitis, Vitiligo, and Psoriasis
Primary objective: The primary objective is to evaluate in the general population the difference between emotional reactions associated with facial involvement by four major dermatologic diseases: psoriasis, atopic dermatitis…
- Conditions
- Psoriasis (PsO), Vitiligo Vulgaris, Atopic Dermatitis, Areata Alopecia
- Trial name
- STIGMADERM (NCT06801821)
- Where
- Italy
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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
Chronic Respiratory Diseases, Cystic Fibrosis
Breath Analysis and Arterial Stiffness in Patients With Respiratory Diseases
Assessment of cardiovascular disorders using echocardiography and arterial stiffness; comparative noninvasive assessment of volatile organic compound (eVOC) exhale breath patterns in patients with different chronic respiratory…
- Conditions
- Chronic Respiratory Diseases, Cystic Fibrosis, Lymphangioleiomyomatosis, Hypersensitivity Pneumonitis
- Trial name
- NCT05727852
- Testing
- Breath test using the Compact PTR-TOF-MS, Portable cardiac monitor "CardioQvark", Assessment of arterial stiffness using the VaSera VS-1500N
- Where
- Russia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- I.M. Sechenov First Moscow State Medical University
Gout Disease, Metabolic Diseases
Landscape of Gout in French Polynesia.
The aim of this research is to characterise the genetic and molecular landscape of gout, inflammation and metabolic diseases, as well as the associated molecular, anthropomorphic and pathological characteristics.
- Conditions
- Gout Disease, Metabolic Diseases, Inflammation
- Trial name
- METABOGOUT (NCT07343336)
- Testing
- Epidemiological study, Blood and urine tests
- Where
- 6 sites in French Polynesia
- Volunteers
- 2,750 people, healthy volunteers welcome
- Sponsor
- Lille Catholic University
CADASIL, CADASIL (Diagnosis)
Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
The project aims to retrospectively and prospectively analyze a population of CADASIL patients in order to study the natural history of the disease by correlating the symptom spectrum with genetic risk and specific…
- Trial name
- GENICa (NCT06938100)
- Where
- 2 sites in Italy, Spain
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Undiagnosed Diseases, Cardiovascular Disease
Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
- Trial name
- NCT02543996
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Prostate Cancer
The i4i PRODICT® Study: Evaluation of the i4i PRODICT® Test in Different Ethnic Groups (The i4i PRODICT® Study).
The i4i PRODICT® study has been developed to investigate the uptake and acceptability of the i4i PRODICT® test which combines both common and rare genetic changes (genetic variants) into one saliva-based DNA test to estimate a…
- Trial name
- NCT06636526
- Testing
- The i4i PRODICT® test., Prostate cancer screening, MRI Scan
- Where
- 3 sites in United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Institute of Cancer Research, United Kingdom
Laxity; Skin
Evaluate the Safety and Efficacy of AGE Serum in Post-menopausal Patients on Hormone Replacement Therapy Taking Glucagon-like Peptide-1 Agonist
The primary objective is to assess the safety and efficacy of the AGE Serum in improving the appearance of skin in post-menopausal subjects on HRT and non-HRT who are takingGLP-1 agonist therapy through the use of investigator…
- Trial name
- NCT07558603
- Testing
- On GLP1 plus HRT, On GLP1 Only
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Goldman, Butterwick, Fitzpatrick and Groff
Gene Mutation-Related Cancer, Genetic Predisposition
Genetic Information Assistant in Telegenetics
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers.
- Trial name
- NCT06089421
- Testing
- Genetic Information Assistant, Telegenetics with UVA genetic counselor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Ovarian Cancer, Genetic Predisposition to Disease
Healthy Volunteers Study
The purpose of this study is to examine the role of the bacterial environments and metabolites in the early detection and prediction of ovarian cancer development.
- Trial name
- NCT06962059
- Testing
- Self-Administered Sample Collection
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Vertigo, Meniere's Disease
Genetic and Biohumoral Factors Involved in Menière's Disease and Their Correlation With Phenotypes
Aim of this work was to assess the role of polymorphisms belonging to genes involved in the regulation of ionic homeostasis in Caucasian patients with Ménière Disease (MD) and compare results with a cohort of patients affected by…
- Conditions
- Vertigo, Meniere's Disease, Vestibular Migraine
- Trial name
- Menière09 (NCT07518069)
- Testing
- a blood withdrawal will be obtained, blood withdrawal
- Where
- Italy
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Anesthesia, Analgesia
Genetic Variants and Perioperative Morbidity and Mortality
Prospective association study to analyse perioperative patients' outcome. Outcome comprises intraoperative and postoperative complications e.g.
- Conditions
- Anesthesia, Analgesia, Surgical Procedure, Operative
- Trial name
- NCT02124499
- Where
- Switzerland
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Inborn Errors of Metabolism, Epilepsy (Treatment Refractory)
Metabolites in Blood and Breath in Metabolic Conditions
In patients with inborn errors of metabolism (IEM) and in those requiring a ketogenic diet for the treatment of medical conditions, relevant biochemical analytes are routinely and regularly measured in venous or capillary blood…
- Trial name
- NCT07704606
- Testing
- Observational Study
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Panhypopituitarism, Gigantism/Acromegaly
An Investigation of Pituitary Tumors and Related Hypothalmic Disorders
There is a variety of tumors affecting the pituitary gland in childhood; some of these tumors (eg craniopharyngioma) are included among the most common central nervous system tumors in childhood.
- Conditions
- Panhypopituitarism, Gigantism/Acromegaly, Prolactinoma, Cushing Disease
- Trial name
- NCT00001595
- Testing
- Tissue specimen collection, MRI
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Huntington Disease
Innovative Imaging and Cognitive BIOmarkers to Predict Huntington's Disease Progression
Intro Huntington's disease (HD) patients suffer from motor, cognitive and behavioral impairments, with heterogeneous phenotypes and variable time course.
- Trial name
- I2BIO-HD (NCT05808153)
- Testing
- radiotracer injection
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Obesity and Obesity-related Medical Conditions, Diabetes
Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)
The purpose of this research study is to validate (check the accuracy of) laboratory assays, intravenous catheter insertion, and equipment or devices and their reproducibility, which is necessary to perform high quality research…
- Conditions
- Obesity and Obesity-related Medical Conditions, Diabetes, Atherosclerotic Disease, Heart Failure
- Trial name
- VALD (NCT07083557)
- Testing
- Endothelial cell collection
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Bettina Mittendorfer