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Clinical Research Directory

Browse clinical research sites, groups, and studies.

9 clinical studies listed.

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Hereditary Diseases

Tundra lists 9 Hereditary Diseases clinical trials. Each listing includes eligibility criteria, study locations, and direct links to research sites in the Tundra directory.

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RECRUITING

NCT06330441

Pancreatic Cancer Screening in a Population at High Risk

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".

Gender: All

Ages: 18 Years - Any

Updated: 2025-09-25

Pancreatic Ductal Adenocarcinoma
Hereditary Diseases
Pancreatitis, Chronic
RECRUITING

NCT05358964

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

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.

Gender: All

Ages: 18 Years - Any

Updated: 2025-09-09

1 state

Hereditary Diseases
RECRUITING

NCT04528498

Embryo Health Study

This study intends to determine the patients' perception and motivation to obtain additional information on their preimplantation embryos' risks of polygenic disorders. Patients undergoing IVF and genetic testing on their embryos for aneuploidies will be given the option to obtain information of their embryos' polygenic disease risk after receiving genetic counseling.

Gender: All

Ages: 18 Years - Any

Updated: 2025-08-26

1 state

Infertility
Hereditary Diseases
RECRUITING

NCT06549725

Clinical Performance of Medical Device Software "Lipidica 1.0" for Processing Data Generated by Lipidomic Analysis in Pancreatic Cancer Screening

Software "Lipidica" is intended to be used for processing data generated by the in-house in vitro diagnostic medical device for lipidomic testing for the purpose of screening Pancreatic cancer (PaC) in the population at high risk of this cancer due to familial risk, selected gene mutations or hereditary pancreatic diseases. The primary objective is to verify that the investigational IVDSW can discriminate between results of patients with Pancreatic cancer and persons without Pancreatic cancer but at higher risk of this cancer disease due to their predispositions. Participants will: * come to baseline and end of study visit for blood sampling and medical imaging * some participant will undertake one more visit depending on their results on baseline

Gender: All

Ages: 18 Years - Any

Updated: 2025-08-01

1 state

Pancreas Cancer
Pancreatic Ductal Adenocarcinoma
Hereditary Diseases
+1
RECRUITING

NCT05587439

Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

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

Gender: All

Ages: 18 Years - Any

Updated: 2025-07-10

1 state

Lung Cancer
Genetic Disease
Genetic Predisposition
+1
ACTIVE NOT RECRUITING

NCT06157983

Evaluation of Cascade Screening for Elevated Lipoprotein(a)

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.

Gender: All

Ages: 18 Years - Any

Updated: 2025-06-08

1 state

Cardiovascular Diseases
Dyslipidemias
Hereditary Diseases
NOT YET RECRUITING

NCT06990633

Lynch Syndrome in Colorectal Cancer Surgery

Study Design (Material and Methods) This is a multicentre, prospective cohort and audit study conducted in Türkiye. The study aims to evaluate the incidence of Lynch syndrome among patients who undergo surgery for colorectal cancer in participating general surgery departments. Over a 12-month period, patients undergoing surgery for histologically confirmed colorectal cancer at multiple tertiary hospitals across Türkiye will be enrolled. Postoperative pathological assessments will include immunohistochemical (IHC) analysis for mismatch repair (MMR) protein expression (MLH1, PMS2, MSH2, and MSH6). In cases showing loss of MLH1 and PMS2 expression, BRAF mutation testing will be performed. If BRAF mutation is detected, MLH1 promoter methylation analysis will follow. A positive result in both tests will suggest a sporadic etiology, whereas the absence of both findings will lead to referral for germline genetic testing using next-generation sequencing (NGS) to investigate Lynch syndrome. For patients with isolated MSH2 and/or MSH6 loss, direct referral to genetic testing will be carried out without BRAF or methylation testing. Patients with intact MMR expression will be recorded as the MMR-proficient control group. Comparative analysis will be conducted between dMMR and MMR-proficient patients, including demographic characteristics (age, sex, family history of cancer), tumor staging, anatomical location, and presence of metastases. The primary outcome is to determine the incidence of Lynch syndrome among surgically treated colorectal cancer patients in Türkiye and to identify clinical and pathological correlations.

Gender: All

Ages: 18 Years - Any

Updated: 2025-05-25

Colo-rectal Cancer
Hereditary Diseases
Lynch Syndrome
RECRUITING

NCT04531696

UZ/KU Leuven Program for Post-mortem Tissue Donation to Enhance Research

UPTIDER is a prospective, interventional, non-Investigational Medicinal Product (non-IMP), non-commercial, single centre post-mortem tissue donation program for metastatic breast cancer patients or patients with a germline pathogenic variant with a moderate to high lifetime risk of breast cancer and at least one malignancy at time of death. The overarching objective of UPTIDER is (i) to unravel metastatic breast cancer evolution, biology, heterogeneity and treatment resistance and (ii) to assess pathogenicity and tumour biology in hereditary cancer syndromes with a high lifetime risk of breast cancer; both through extensive post-mortem multi-level and multi-region sample analysis.

Gender: All

Ages: 18 Years - Any

Updated: 2024-06-28

Breast Cancer
Hereditary Diseases
RECRUITING

NCT06107400

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

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

Gender: All

Ages: 12 Years - 35 Years

Updated: 2024-06-03

1 state

Alpha Thalassemia Hemoglobin H Constant Spring
Hemoglobinopathies
Hereditary Diseases