Clinical trials: Genetic Screening, active
Emphysema, Chronic Obstructive Pulmonary Disease
Emphysema Research Registry and Biosample Repository
The Comprehensive Lung Center (CLC) at the University of Pittsburgh Medical Center (UPMC Health System) provides patients with any type of breathing or lung disorder a full range of diagnostic and therapeutic services.
- Conditions
- Emphysema, Chronic Obstructive Pulmonary Disease, Chronic Bronchitis
- Trial name
- NCT00307281
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Pancreas Cancer, Pancreatic Ductal Adenocarcinoma
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…
- Conditions
- Pancreas Cancer, Pancreatic Ductal Adenocarcinoma, Hereditary Diseases, Pancreatitis, Chronic
- Trial name
- NCT06549725
- Testing
- software Lipidica, endoscopic ultrasonography, magnetic resonance
- Where
- 16 sites in Czechia
- Volunteers
- 419 people, healthy volunteers welcome
- Sponsor
- Lipidica, a.s.
Thoracic Cancers, Malignant Pleural Mesotheliomas NOS
Evaluation of Cell Changes in Blood and Tissue in Cancers of the Lung, Esophagus and Lung Lining
Background: Chromatin is is the structural building block of a chromosome. It is found inside the nucleus of the cell and consists of a complex of DNA and protein.
- Conditions
- Thoracic Cancers, Malignant Pleural Mesotheliomas NOS, Lung Cancer NOS, Esophageal Cancers NOS
- Trial name
- NCT00242723
- Where
- United States
- Volunteers
- 1,559 people
- Sponsor
- National Cancer Institute (NCI)
Prostate Carcinoma
Genetic Information to Inform Treatment and Screening for Prostate Cancer, GIFTS Study
This trial studies the role of inherited (present at birth) mutations in cancer risk genes such as BRCA2, BRCA1, ATM, CHEK2, and others in relation to prostate cancer.
- Trial name
- GIFTS (NCT04254133)
- Testing
- Questionnaire, Biospecimen Collection, Genetic Testing
- Where
- United States
- Volunteers
- 1,360 people, healthy volunteers welcome
- Sponsor
- Fred Hutchinson Cancer Center
Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH)
The ORIGIN-FH Study
The goal of this clinical trial is to identify different types of Familial Hypercholesterolemia (FH) in infants and newborns. Participants will: undergo a cheek swab for genetic testing (parents only) have 5 blood samples…
- Conditions
- Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia
- Trial name
- ORIGIN-FH (NCT07470723)
- Testing
- Screening for FH
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- University of Wisconsin, Madison
Thalassemia
Development of THALEA Kit and Its Impact on Knowledge, Attitude, and Intention for Premarital Thalassemia Screening
Thalassemia, a common genetic disease, is often overlooked compared to infectious diseases like HIV, despite its significant effects for families planning to have children.
- Trial name
- THALEA (NCT06800495)
- Testing
- THALEA (Thalassemia Education and Awareness) Kit, Basic thalassemia and family health education
- Where
- Malaysia
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Universiti Teknologi Mara
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Sickle Cell Trait, Sickle Cell Disease
Blood Sampling for Research Related to Sickle Cell Disease
This study will collect representative blood samples from healthy children and adults and from children and adults who have unique red blood cell features that are related to sickle cell disease.
- Conditions
- Sickle Cell Trait, Sickle Cell Disease, Sickle Cell Anemia
- Trial name
- NCT00542230
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Hereditary Cancer Syndromes
Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening
The investigators hypothesize that pregnancy and preconception care may be a feasible and effective time to offer inherited cancer risk screening.
- Trial name
- FOCUS (NCT07052266)
- Testing
- MyRisk Hereditary Cancer Test
- Where
- 5 sites in United States
- Volunteers
- 550 people
- Sponsor
- Weill Medical College of Cornell University
Colorectal Cancer, Colorectal Adenoma
The Implementation of Genetic Risk for Colorectal Cancer Screening
The goal of this study is to investigate genetic risk for colorectal cancer utilizing polygenic risk scores (PRS) for adults over 45 who have not received their first colonoscopy. The main questions it hopes to address are: 1.
- Conditions
- Colorectal Cancer, Colorectal Adenoma, Colorectal Polyp
- Trial name
- PRO-GENE-COLON (NCT07621757)
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Endeavor Health
Severe Combined Immunodeficiency
The Experience of Screening for SCID
This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of…
- Trial name
- NCT05651113
- Testing
- SCID Screening
- Where
- United Kingdom
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- King's College London
Cardiovascular Diseases, Dyslipidemias
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…
- Conditions
- Cardiovascular Diseases, Dyslipidemias, Hereditary Diseases
- Trial name
- LipoaScreen (NCT06157983)
- Testing
- measurement of lipoprotein(a)
- Where
- Sweden
- Volunteers
- 1,950 people
- Sponsor
- Karolinska Institutet
Lynch Syndrome
Multi-Organ Screening Recommendations in Patients With Lynch Syndrome
The purpose of this study is to examine how people with a family history of colon cancer and other related cancers respond to recommendations for cancer screening after genetic counseling.
- Trial name
- NCT00582296
- Testing
- questionnaires, telephone interview, optional blood drawn, questionnaires, telephone interview and optional blood drawn
- Where
- 8 sites in United States
- Volunteers
- 1,530 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Cardiac Amyloidosis
AI Echocardiographic Screening of Cardiac Amyloidosis
Recent advances in machine learning and image processing techniques have shown that machine learning models can identify features unrecognized by human experts and accurately assess common measurements made in clinical practice.
- Trial name
- NCT06664866
- Testing
- EchoNet-LVH Assessment
- Where
- 4 sites in United States
- Volunteers
- 500 people
- Sponsor
- Cedars-Sinai Medical Center
Genetic Screening, Hereditary Disease
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary…
- Conditions
- Genetic Screening, Hereditary Disease, Newborn, Stillbirth
- Trial name
- NCT04905537
- Testing
- No intervention
- Where
- China
- Volunteers
- 4,000 people
- Sponsor
- Children's Hospital of Fudan University
Gaucher Disease
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
- Trial name
- NCT06258577
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- Chung-Hsing Wang
Endometrial Cancer, Lynch Syndrome
Menstrual Cup for Early Endometrial Cancer Detection in Lynch Syndrome
Study Goal: This pilot study wants to find out if using a menstrual cup can be a good, non-invasive way to collect samples from the lining of the uterus (called the endometrium) to help screen for endometrial cancer.
- Conditions
- Endometrial Cancer, Lynch Syndrome, Screening, Early Detection of Cancer
- Trial name
- SCREEN-CUP (NCT07220239)
- Testing
- Menstrual cup use
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Jessica D. St. Laurent, MD
OPMD, Oral Cancer , Oral Squamous Cell Carcinoma, Oral Cavity Cancer
The Importance of Mucosal Screening in the Prevention of Oral Cancer.
Patients attending the Department of Oral Mucosal and Periodontal Diseases at the University Dental Center of the Medical University of Warsaw who provide written informed consent will be invited to participate in the study.
- Conditions
- OPMD, Oral Cancer , Oral Squamous Cell Carcinoma, Oral Cavity Cancer, Oral Potentially Malignant Lesions, Leukoplakia Oral
- Trial name
- NCT07682883
- Testing
- Fluorescent oral examination (FOE), Conventional oral examination
- Where
- Poland
- Volunteers
- 1,383 people, healthy volunteers welcome
- Sponsor
- Medical University of Warsaw
Familial Hypercholesterolemia
Child-Parent Familial Hypercholesterolemia Screening
Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease.
- Trial name
- NCT04529967
- Testing
- no interventions
- Where
- 6 sites in China
- Volunteers
- 15,000 people
- Sponsor
- Children's Hospital of Fudan University