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Hereditary Diseases clinical trials

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NCT ID: NCT06330441 Recruiting - Clinical trials for Pancreatic Ductal Adenocarcinoma

Pancreatic Cancer Screening in a Population at High Risk

ScrePan
Start date: January 7, 2022
Phase: N/A
Study type: Interventional

Pancreatic cancer is one of the diseases with the worst prognosis, which is mainly due to the initial asymptomatic prognosis. Unfortunately, the incidence of this disease in the Czech Republic is still increasing. In a certain proportion of patients, it is possible to predict the disease, e.g. due to family burdens. Regular follow-up of such individuals is the subject of the SCREPAN study: "Pancreatic Cancer Screening in High-Risk Persons".

NCT ID: NCT06183138 Recruiting - Hereditary Diseases Clinical Trials

Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases

MAOFGAMDNGD
Start date: September 1, 2022
Phase:
Study type: Observational

object name: Multicenter analysis of genomic and metabolic data of neonatal genetic diseases. goal of study:(1) Gene sequencing data (138 genes related to 133 common genetic diseases) and tandem mass spectrometry metabolomics data (11 amino acids and 28 acylcarnitines) of about 40,000 newborns from the South China Neonatal Genetic Screening Alliance participating units were collected and collated to complete the database construction of genes and mass spectrometry. (2) Explore the use of genome and metabolome big data and machine learning algorithms such as Random forest, Support Vector Machine, Elastic net, Multilayer Perceptron to construct prediction models for common genetic diseases, and strive to achieve accurate diagnosis and prediction of common genetic diseases using simple tandem mass spectrometry metabolome data, and expand the application range of tandem mass spectrometry technology for disease detection. research design:retrospective observational study Research period:September 2022 to December 2025 Participating units:South China Neonatal genetic screening Alliance (including cooperation units of 123 hospitals) research object:Gene screening data of 40,000 newborns ( 138 genes related to 133 common genetic diseases ) and tandem mass spectrometry data ( 11 amino acids and 28 acylcarnitines ). Inclusion criteria:( 1 ) Newborns who underwent genetic screening and tandem mass spectrometry at the same time. ( 2 ) Age : 0-28 days, gestational age 37-42 weeks. Excluded criteria:Data that meets any of the following conditions need to be eliminated : ( 1 ) Neonatal data with unclear clinical basic information ; ( 2 ) Lack of traceability core information data ; ( 3 ) The data that the test results cannot be analyzed and interpreted. data collection:( 1 ) Basic information : gender, age, sample type, subject traceability number / ID number, etc. ( 2 ) Clinical symptoms, biochemical and imaging data of positive samples. ( 3 ) Gene detection results and tandem mass spectrometry results. ( 4 ) Date of test data, instrument model, reagent type, etc.

NCT ID: NCT06157983 Recruiting - Clinical trials for Cardiovascular Diseases

Evaluation of Cascade Screening for Elevated Lipoprotein(a)

LipoaScreen
Start date: December 1, 2023
Phase:
Study type: Observational

The aim of the current project is to evaluate the penetrance of elevated plasma Lp(a) levels in patients with atherosclerotic coronary artery disease to their first- and second-degree biological relatives based on data from a clinical health care development project.

NCT ID: NCT06107400 Recruiting - Hemoglobinopathies Clinical Trials

Safety and Efficacy of RM-004 Cells for Hemoglobin H-Constant Spring Disease

Start date: October 8, 2023
Phase: Early Phase 1
Study type: Interventional

The purpose of this study is to evaluate the safety and efficacy of RM-004 for Hemoglobin H-Constant Spring disease.

NCT ID: NCT05721326 Enrolling by invitation - Ovarian Cancer Clinical Trials

Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition

Start date: May 1, 2023
Phase: N/A
Study type: Interventional

The goal of this sequential study design is to increase genetic testing in those meeting national clinical guidelines. The main question it aims to answer is: which intervention is most effective in uptake of genetic testing for the target population? Participants will receive genetic testing and counseling that may initiate life-saving screenings.

NCT ID: NCT05587439 Recruiting - Lung Cancer Clinical Trials

Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

INHERIT
Start date: January 1, 2023
Phase:
Study type: Observational

The purpose of this research study is to learn more about the inherited risk for developing lung cancer.

NCT ID: NCT05453474 Completed - Hereditary Diseases Clinical Trials

Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

Start date: August 8, 2021
Phase: N/A
Study type: Interventional

The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.

NCT ID: NCT05358964 Not yet recruiting - Hereditary Diseases Clinical Trials

Family Health Histories: Creating a Culturally Tailored Tool to Reduce Health Disparities in the Black Community

FHH
Start date: January 1, 2024
Phase: N/A
Study type: Interventional

The understanding, utilization and uptake of Family Health History is essential to the prevention of health disparities in the African American community. Creating a culturally tailored Family Health History tool, co-developed by members of the African American community will inform, educate and empower African Americans about health issues related to their family genealogy. Applying the knowledge gained via Family Health Histories to increase preventative behaviors including screenings thus linking people to needed health services to prevent the onset of disease and illness.

NCT ID: NCT05161169 Recruiting - Clinical trials for Genetic Predisposition to Disease

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

Start date: December 21, 2022
Phase: N/A
Study type: Interventional

This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of 500 healthy infants and their parents from Boston, MA; New York City, NY; and Birmingham, AL. A small blood sample will be collected from each infant, and whole genome sequencing will be performed in 1/2 of the cohort following a randomized controlled trial design. 3 months later, the randomization status and sequencing results will be shared with parents and pediatricians. Investigators will study the medical, behavioral, and economic outcomes of genomic sequencing to better understand how this technology can be implemented in outpatient primary care settings.

NCT ID: NCT04548921 Enrolling by invitation - Hereditary Diseases Clinical Trials

Biomarker for Friedreich's Ataxia (BioFridA)

BioFridA
Start date: July 1, 2020
Phase:
Study type: Observational

International, multicenter, observational, longitudinal monitoring study to identify biomarker/s for Friedreich's Ataxia and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s