Clinical trials: Genetic Variation
Hereditary Breast/Ovarian Cancer (brca1, brca2), Lynch Syndrome
Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes
The goal of this clinical trial is to address care gaps for participants at high risk of breast and ovarian cancer (HBOC), or Lynch syndrome (LS) because of testing positive for specific genetic variants.
- Conditions
- Hereditary Breast/Ovarian Cancer (brca1, brca2), Lynch Syndrome, Genetic Variation, HBOC Syndrome
- Trial name
- PC-CDS (NCT06914726)
- Testing
- Patient Centered Clinical Decision Support (PC-CDS)
- Where
- United States
- Volunteers
- 2,488 people
- Sponsor
- HealthPartners Institute
Metabolic Diseases, Diabetes Mellitus (Type 2)
Specificities of Atypical Non AutoImmune Diabetes (ANAID) in the French West Indies
Genetics variants could be involved in atypical non-autoimmune diabetes revealed by ketoacidosis. The objective of this research will be to determine the relationships between the genetic variants already described in known…
- Conditions
- Metabolic Diseases, Diabetes Mellitus (Type 2), Genetic Variation, Genetic Profile
- Trial name
- DiAGeNA (NCT07576374)
- Where
- Guadeloupe
- Volunteers
- 118 people
- Sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Cancer, Malignancies Multiple
CAnadian CAncers With Rare Molecular Alterations (CARMA) - Basket Real-world Observational Study (BROS)
This study will collect data on Canadian cancer patients that have uncommon/rare changes in their tumours, such as alterations/rearrangements in the genetic material inside cells - known as deoxyribonucleic acid, or DNA, which…
- Conditions
- Cancer, Malignancies Multiple, Malignant Solid Tumor, Cancer, Therapy-Related
- Trial name
- CARMA-BROS (NCT04151342)
- Testing
- Cancer treatment with tyrosine kinase inhibitors (TKIs) or other molecularly targeted therapeutic agents., Patient-reported outcomes (PROs)
- Where
- 27 sites in Canada
- Volunteers
- 5,500 people
- Sponsor
- University Health Network, Toronto
Breast Carcinoma, Genetic Variation
Familial Breast Cancer in China
This study is a retrospective descriptive study to collect clinical data (mainly including medical records and follow-up information, etc.) of breast cancer patients with genetic variation who were first diagnosed and treated in…
- Trial name
- NCT06833216
- Testing
- Genetic variation
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Hypertrophic Cardiomyopathy, Genetic Disease
Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy
Investigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations.
- Conditions
- Hypertrophic Cardiomyopathy, Genetic Disease, Gene Product Sequence Variation
- Trial name
- NCT03043209
- Testing
- Genomic sequencing
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- The Cleveland Clinic
Glioma, Molecular Sequence Variation
Survival Significance of Molecular Pathology and Genetic Variation in Brain Gliomas
This study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic data.
- Conditions
- Glioma, Molecular Sequence Variation, Genetic Change
- Trial name
- NCT04216537
- Testing
- Glioma groups based on molecular pathology or genetic variation
- Where
- China
- Volunteers
- 3,000 people
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
Genotype, Pain
Genetics and Pain Severity in Sickle Cell Disease
Background: Pain is the most common symptom of sickle cell disease. Episodes of severe sickle cell pain are known as "crises." High rates of pain crises are associated with a higher risk of early death.
- Conditions
- Genotype, Pain, Genetic Variation, Quantitative Sensory Testing (QST)
- Trial name
- NCT01441141
- Where
- United States
- Volunteers
- 67 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Genetics, Genetic Disease
Personalized Genomic Research
Background: Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by…
- Conditions
- Genetics, Genetic Disease, Genetic Linkage, Birth Defects
- Trial name
- NCT01294345
- Where
- United States
- Volunteers
- 353 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Genetic Variation, Diabetes
Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus
The aim of the project is to positionally clone susceptibility genes for NIDDM. Patients will be ascertained in Finland from previous health surveys and hospital discharge records.
- Trial name
- NCT00339885
- Where
- 4 sites in Finland, Norway
- Volunteers
- 32,379 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Long QT Syndrome, ADHD
Drug-induced Repolarization ECG Changes
Studies have shown that the risk of developing heart arrhythmias, is increased in patients receiving medication for Attention-deficit hyperactivity disorder (ADHD) and depression.
- Conditions
- Long QT Syndrome, ADHD, Depression, Death
- Trial name
- NCT03642405
- Testing
- Electrocardiogram examination, Echocardiography, Blood Samples
- Where
- Denmark
- Volunteers
- 150 people
- Sponsor
- Copenhagen University Hospital at Herlev
The Genetic Variation of Type 1 Diabetes
PST Linkage Based Analysis in the Family of More Than Two Members With Type 1 Diabetes in Taiwan
The purpose of this study is to explore the susceptible genes for Type 1 diabetes in Taiwan through the new genetic study methods.
- Trial name
- PATT (NCT01955746)
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- Chang Gung Memorial Hospital
Evaluate the Association Between Certain Environmental Exposures (e.g. Cigarette Smoking, Alcohol Drinking, Betel Nut Chewing…) and Head and Neck Cancers, Assess the Effect of Genetic Factors, Including Both SNP and Copy Number Variation (CNV) Through Analysis of Both Main Effect and Gene-gene Interaction
International Cancer of the Head and Neck, Genetics and Environment (InterCHANGE) Study
Our overall objective is to understand the role of lifestyle factors, genetics and HPV infection in the development and prognosis of head and neck cancer particularly in Asia.
- Trial name
- InterCHANGE (NCT01972802)
- Where
- Taiwan
- Volunteers
- 900 people
- Sponsor
- National Taiwan University Hospital