Clinical trials: Genetic Association Studies
Liver Disease
Pharmacogenomics Study on IL28B Genetic Variants in Italian Patients With HCV Infection naïve to Treatment.
More than 1.5 millions individuals are infected with HCV in Italy. They are at risk to develop related morbidity and mortality from cirrhosis and hepatocellular carcinoma, unless the evolution of their disease is halted by…
- Trial name
- NCT01437969
- Testing
- genotyping and/or sequencing
- Where
- Italy
- Volunteers
- 500 people
- Sponsor
- Casa Sollievo della Sofferenza IRCCS
Obesity Prevention
Assessing Obesity Related Risk Factors in Adult Population: A Genetic and Behavioral Study
This study aims to explore the association between Melanocortin-4 Receptor (MC4R) polymorphisms, eating habits, and social determinants of health in a heterogeneous adult population in Georgia, USA.
- Trial name
- ORF (NCT07341841)
- Testing
- Diet and exercise, Lifestyle Intervention, Exercise
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Augusta University
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)
Sickle Cell Anemia
Pilot Study of Fructose for Sickle Cell Crisis
OBJECTIVES: I. Evaluate the efficacy and tolerability of fructose administered every 6 hours for up to 72 hours to patients in active sickle cell crisis. II.
- Trial name
- NCT00004797
- Testing
- fructose
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Coronary Restenosis
Whole Genome Association Study to Identify and Validate Genes for Restenosis: CardioGene Validation Proposal
In this replication study at the Cleveland Clinic, we seek to collaborate to validate findings of the CardioGene Study in an independent cohort of patients who have undergone bare metallic stenting.
- Trial name
- NCT00589810
- Where
- United States
- Volunteers
- 761 people
- Sponsor
- The Cleveland Clinic
Glioblastoma
Key Longitudinal Associations With Risk and Glioblastoma Outcomes
The goal of this observational study is to find out what factors affect the health and risks in adults with glioblastoma (GBM), a grade 4 brain cancer.
- Trial name
- Key LARGO (NCT06625684)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Arrhythmia, Cardiovascular Diseases
Diagnostic Investigation of Sudden Cardiac Event Risk
The overall objective of the DISCERN study is to develop and validate a genomic diagnostic assay to identify patients at increased risk for lethal ventricular arrhythmias and sudden cardiac death (SCD).
- Conditions
- Arrhythmia, Cardiovascular Diseases, Heart Failure, CVD
- Trial name
- DISCERN (NCT00500708)
- Where
- 8 sites in United States
- Volunteers
- 1,564 people
- Sponsor
- CardioDx
Chediak-Higashi Syndrome
Study of Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell…
- Trial name
- NCT00005917
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pancreatitis, Pancreatic Disease
Activation of Biobank Registry for Bilio-pancreatic Diseases
The purpose of establishing the biobank is to create a collection of biological material and clinical data, with a prospective and retrospective mold, in order to investigate the role of genetic predisposition in multifactorial…
- Conditions
- Pancreatitis, Pancreatic Disease, Non-Neoplastic Pancreatic Disorder, Pancreatic Adenocarcinoma
- Trial name
- BIO-PANCREAS (NCT06552078)
- Where
- Italy
- Volunteers
- 2,000 people
- Sponsor
- IRCCS San Raffaele
Hemophilia
Canadian CHO-KLAT/H-FIT Study - Quality of Life of, and Burden of Caring for, Persons With Hemophilia
The primary goal of this observational study is to determine if: health-related quality of life of boys with moderate/severe hemophilia A who are followed in Canadian pediatric hemophilia treatment centres is significantly…
- Trial name
- NCT06191068
- Where
- Canada
- Volunteers
- 190 people
- Sponsor
- The Hospital for Sick Children
Gas and Bloating, Diarrhea
Radicle GI Health RDH™: A Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
A Randomized, Double-Blind, Placebo-Controlled Direct-to-Consumer Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
- Conditions
- Gas and Bloating, Diarrhea, Constipation
- Trial name
- NCT07230821
- Testing
- GI Health Active Product 1
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Radicle Science
Cluneal Syndrome, Nerve Entrapment Syndrome
Study on the Efficacy of Infiltration of Upper Cluneal Nerves in Chronic Pain Related to Cluneal Syndrome
Lower back pain is a very common complaint in the Chronic Pain Clinic. Its etiology is nonspecific in 85% of the cases. In 1957, Strong and Davila reported that the superior cluneal nerves (SCNs) and middle cluneal nerves (MCNs)…
- Trial name
- NCT05423132
- Testing
- Ropivacaine injection, Physiological serum injection
- Sponsor
- Centre Hospitalier Universitaire Saint Pierre
Diabetes, Diabetic Retinopathy
Genetic Association of Diabetic Retinopathy-1
The primary purpose of the study is to investigate allele frequencies of candidate genes in Chinese diabetic patients with or without known diabetic retinopathy.
- Trial name
- DMR-1 (NCT01298245)
- Where
- Taiwan
- Volunteers
- 200 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
PSP, CBD
Clinico-Pathologic-Genetic-Imaging Study of Neurodegenerative and Related Disorders
The investigators aim to learn more about symptoms suggestive of a neurodegenerative process.
- Conditions
- PSP, CBD, PCA, LPA
- Trial name
- AND1 (NCT04680130)
- Testing
- C-11 PiB, AV1451 Tau, C-11 ER176
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Mayo Clinic
Phenylketonuria (PKU)
Multiomics Approach in Adult Patients With Phenylketonuria
The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.
- Trial name
- GENOPHEN (NCT07484945)
- Where
- 15 sites in France
- Volunteers
- 149 people
- Sponsor
- University Hospital, Tours
Colitis, HIV Infections
A Study of Ganciclovir in the Treatment of Cytomegalovirus of the Large Intestine in Patients With AIDS
To attempt to demonstrate the efficacy of ganciclovir (DHPG) treatment of cytomegalovirus (CMV) colitis in AIDS patients by evaluating both clinical and virologic parameters.
- Trial name
- NCT00002273
- Testing
- Ganciclovir
- Where
- United States
- Sponsor
- Hoffmann-La Roche
Cystic Fibrosis (CF), CFTR-related Disorders
A Prospective Study of Advanced Diagnostics in People With an Unclear Diagnosis of Cystic Fibrosis
Sometimes it is very difficult to tell if someone has cystic fibrosis (CF), especially when they have rare CF genes. Without this certainty, they are unlikely to get the correct treatment so their health may be affected.
- Trial name
- ADVANCE-CFTR (NCT07402434)
- Testing
- Rectal Biopsy, Rectal biopsy taken opportunistically during endoscopy procedure for other reasons., Blood test for CFTR Genotyping
- Where
- United Kingdom
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Perimenopause, Perimenopause-Related Depression
Intra Ovarian Muse Cell Injection for Perimenopause Symptom Relief and Ovarian Function Restoration (MUSE-OVARY)
This observational study examines the safety and effects of injecting Muse cells (a type of naturally occurring stem like cells found in adult tissues such as fat or bone marrow) directly into the ovaries of women aged 28 to 70…
- Conditions
- Perimenopause, Perimenopause-Related Depression, Premature Ovarian Insufficiency, Premature Ovarian Failure (POF)
- Trial name
- MUSE-OVARY (NCT07511660)
- Where
- Mexico
- Volunteers
- 12 people
- Sponsor
- Healing Hope International
Marfan Syndrome, Marfan Syndrome Cardiovascular Manifestations
Living With Marfan Syndrome and Your Aorta
Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening.
- Trial name
- LIMA I (NCT04776668)
- Where
- United Kingdom
- Volunteers
- 75 people
- Sponsor
- Barts & The London NHS Trust
Acne Vulgaris
Profiles Analysis of Genome Wide Association Study (GWAS) in Acne Vulgaris in Indonesia.
This study is a series of descriptive-analytic studies on genomic variants in the facial skin of patients with AV at the Dermatology and Venereology Polyclinic by determining the genetic profile by GWAS examination in AVB and…
- Trial name
- NCT06501560
- Testing
- GWAS
- Where
- Indonesia
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr.dr.Irma Bernadette, SpKK (K)