Neoplasms

Urinary Tract, Sexual Organs, and Pregnancy Conditions

All Conditions

Prostatic Neoplasms

Genital Neoplasms, Male

Urogenital Neoplasms

Genital Diseases

Genital Diseases, Male

Urogenital Diseases

Prostatic Diseases

Male Urogenital Diseases

In-clinic or virtual educational session on germline testing in prostate cancer with a trained educator.

Educational intervention with trained educator on overview, rationale, implications, and risks and benefits of germline testing in prostate cancer.

Educational intervention.

Rana McKay, MD

Rana R McKay, MD

A quality improvement initiative to improve rates of germline testing among men with prostate cancer through the use of an in-clinic educational session.

This is a prospective single arm quality improvement initiative for the use of a standardized educational intervention on germline testing in prostate cancer to improve the rates of germline genetic testing among patients recommended for testing. Patients who consent to the study will undergo a one-on-one education session regarding the rationale and the benefits/risks of germline testing. Following the educational session, if a patient wishes to proceed with testing, they will sign the standard consent to proceed with germline testing via a commercial assay.

Improving Germline Testing in At-Risk Patients With Prostate Cancer

IMPRINT: A Pilot Study to Improve Germline Testing in At-Risk Patients With Prostate Cancer

Rate of patients agreeing to proceed with germline testing among those approached with the educational intervention.

Assessment via baseline and post intervention knowledge questionnaire.

Assessment via baseline and post intervention questionnaire.

Assessment via clinician survey upon receipt of germline testing results.

Assessment via tabulation of all germline pathogenic, likely pathogenic mutations and and variants of uncertain significance.

University of California, San Diego

Associate Professor of Medicine and Urology

Digestive System Diseases

Rare Diseases

Stomach Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Stomach Diseases

Stomach Cancer

Anti-Infective Agents

All Drugs and Chemicals

Central Nervous System Depressants

Anti-Bacterial Agents

Antibiotics, Antitubercular

Ethanol

Histamine H2 Antagonists

Proton Pump Inhibitors

Formaldehyde

Molecular testing will be done on formalin fixed paraffin-embeded (FFPE) tissue collected at the time of gastroadenocarcinoma diagnosis and subsequent biopsies. Participants who are alive will be asked to complete a survey and consent to germline testing.

Molecular testing will be done on formalin fixed paraffin-embeded (FFPE) tissue collected at the time of gastroadenocarcinoma diagnosis and subsequent biopsies. Participants will be asked to complete a survey and consent to germline testing.

Molecular testing on formalin fixed paraffin-embedded (FFPE) tissues on retrospectively identified patients with gastric adenocarcinoma.

Molecular testing for all participants.

Germline testing will be done on prospectively identified patients and in retrospectively identified patients who are still alive.

Germline Testing

Survey will be administered on prospectively identified patients and in retrospectively identified patients who are still alive. Survey will be administered in person or via telephone. The survey in the language of the participants choice (English or Spanish) on sociodemographic information, current and/or prior PPI (proton pump inhibitor), H2 blocker, antibiotic, tobacco, alcohol, and recreational drug use. Questionnaire will include other risk factors for gastric adenocarcinoma such as certain dietary constituents (high salt diet, high consumption of processed meat, etc.) and occupational exposures.

Survey

Mio Kitano, MD

This protocol is a single-institution feasibility study to identify the molecular and epidemiological risk factors in the development of gastric cancer in high-risk predominantly Hispanic South Texas population. The study is broken down into two main parts: 1) To identify molecular differences in gastric adenocarcinoma (GAC) between Non-Hispanics and Hispanics, stratified by age, and in benign, pre-malignant, and malignant gastric lesions; and 2) To identify environmental and clinicopathological factors in Hispanics associated with specific molecular changes linked to the development of GAC.

The first part of the study will be accomplished by performing molecular testing on formalin-fixed paraffin-embedded (FFPE) tissues on retrospectively identified patients with GAC. Germline testing will be done on both retrospectively and prospectively identified cohort of patients with diagnosis of GAC. The second part of the study will be accomplished via survey administration on retrospectively and prospectively identified patients with diagnosis of GAC and to test Helicobacter pylori (H. pylori) and Epstein-Barr virus (EBV) infection status, which are known risk factors for the development of GAC, on their FFPE gastric specimen. The data from part 1 and part 2 will be analyzed and correlated. The overall goal of the study is to identify molecular markers and environmental risk factors in GAC unique to Hispanics relative to Non-Hispanics in South Texas, and to define molecular alterations in pre-malignant gastric lesions associated with the development of GAC. The long-term goal is to improve racial disparities by defining prognostic and therapeutic molecular markers and environmental risk factors in Hispanics and ultimately for all patients with GAC. Identification of high-risk molecular markers and environmental factors in the development of GAC will help future deployment of improved prevention and surveillance modalities.

FFPE from gastric biopsy will be processed for molecular testing and retained for further testing

Molecular and Epidemiological Risk Factors in the Development of Gastric Cancer

Identification of Molecular and Epidemiological Risk Factors in the Development of Gastric Cancer in High-risk Predominantly Hispanic Population

DNA from archived FFPE gastric cancer tissue from patients with diagnosis of GAC will be analyzed for the top 25 mutated genes identified in The Cancer Genome Atlas. The results will be compared and analyzed between Hispanics and non-Hispanics. In addition, germline testing using a 156 gene panel using saliva will be performs on patients with GAC and compared between Hispanics and non-Hispanics. Difference in somatic and germline mutations will be analyzed in patients with GAC between Hispanics and non-Hispanics.

Archived FFPE slides will be separated into malignant, normal, and pre-malignant sections after histopathology review. These include normal or pre-malignant adjacent tissue from GAC specimen or from prior gastric biopsy specimen. FFPE samples will be stratified into 4 main groups: 1) normal/superficial gastritis (SG); 2) atrophic gastritis (AG)/intestinal metaplasia (IM); 3) dysplasia; and 4) gastric adenocarcinoma (GCA). Top genes among the 25 analyzed in Outcome 1 will be studied on 50 benign and 100 pre-malignant samples and compared to the results from GAC samples from Outcome 1.

A comprehensive survey will be administered to patients with diagnosis of GAC retrospectively (to those who are still alive) and prospectively to query their anthropomorphic data, medical co-morbidities, sociodemographic information, dietary constituents, and exposures to known risk factors in the development of GAC. FFPE with gastric cancer tissue will be tested for EBV and H. pylori retrospectively and prospectively to test for prior exposure to these infections that are known risk factors for GAC.

IIMS-UT Health San Antonio

National Center for Advancing Translational Sciences (NCATS)

The University of Texas Health Science Center at San Antonio

Clinical Investigator

Symptoms and General Pathology

Syndrome

Genetic Predisposition to Disease

Disease Susceptibility

Disease Attributes

Investigators will recruit families and patients diagnosed with a Cancer Predisposition Syndrome within 3 years. Participants will be provided with a digital care plan and optional accompanying text message reminders.

Investigators will develop digital care plans for 10 common Cancer Predisposition Syndromes for patients diagnosed within 3 years.

Digital Care Plans

Suzanne MacFarland, MD

Lisa Schwartz, PhD

Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition Syndromes (CPS).

As over 15% of pediatric cancers are associated with a cancer predisposition, it is increasingly becoming standard of care for children with cancer, as well as those with suspected hereditary risk, to be evaluated for germline cancer predisposition. Unfortunately, the increase in pediatric genetic testing has exceeded the pace of research supporting effective cancer surveillance in positive cases. Additionally, guidelines for cancer predisposition management are not easily accessed or understood by families; thus, there is often a disconnect between the understanding and retention of such information relayed to families.

In this study, Investigators will develop and evaluate the acceptability, feasibility, and preliminary efficacy of digital care plans for Cancer Predisposition Syndromes (CPS) with accompanying text message reminders for children and adolescents with a known CPS. Digital care plans and text messages will be created for 10 common CPS. Investigators will use a quasi-experimental design with pre and post testing of the same cohort, before and after delivery of care plan and accompanying messages. To evaluate the impact of the digital care plans, Investigators will compare assessments of the same cohorts at 3 and 6 months time points.

Comparison of pre and post testing of same cohort.

Care Plans for Cancer Predisposition

Integration of Multimodal Cancer Predisposition Genetic Counseling Practices Within the Pediatric Oncology Setting: Digital Care Plans for Patients With CPS

Investigators are committed to making all data, protocols, tools, and materials available to the scientific community, in compliance with Children's Hospital of Philadelphia policies and NIH "Sharing Data and Resources" statement, NIH Grants Policy Statement, and the NIH Office of Extramural Research, Division of Extramural Inventions \& Technology Resources (DEITR) Intellectual Property Policy. This includes sharing of protocols freely with collaborators and sharing of data through peer-reviewed publication and presentation in scientific meetings. All members of the research team will comply with the NIH policy on sharing data by protecting the privacy and rights of human subjects involved in the research at all times. All members of the research team with comply with the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and its accompanying regulations.

Change in knowledge score for participating family members will be measured by participants completion of electronic questionnaires administered via REDCap. The change in the mean and standard deviation will be assessed at 3 months and 6 months. A higher score indicates greater knowledge of care plans content.

Acceptability will be measured by participants completion of electronic questionnaires administered via REDCap. Acceptability ratings will be documented with standard descriptive statistics such as means and frequencies. A higher score indicates indicates higher satisfaction, perceived appropriateness, positive effect, demand, and potential for future use.

Feasibility will be assessed with absence of technical difficulties allowing the Clinical Research Coordinator (CRC) to create care plan in under 15 minutes in a busy clinical setting.

Satisfaction with decision to have germline testing will be measured by participants completion of electronic questionnaires administered via REDCap. The change in the mean and standard deviation will be assessed at 3 months and 6 months and compared to baseline. A higher score indicates greater satisfaction with decision to have child genetically tested.

Cancer-related anxiety will be measured by participants completion of electronic questionnaires administered via REDCap. The change in the mean and standard deviation will be assessed at 3 months and 6 months and compared to baseline. A higher score indicates greater cancer-related stress.

Distress after receipt of genetic test results will be measured by participants completion of electronic questionnaires administered via REDCap. The change in the mean and standard deviation will be assessed at 3 months and 6 months and compared to baseline. A higher score indicates greater distress about genetic test result disclosure.

National Institutes of Health (NIH)

National Human Genome Research Institute (NHGRI)

Children's Hospital of Philadelphia

Germline genetic testing via Color Health's Hereditary Cancer Panel.

Genetic Testing

A Genetic Counselor will review results with participants and discuss clinical implications and recommendations.

Genetic Counseling

Participants will complete the EORTC QLQ-C30 questionnaire every 6 months.

Patient Reported Outcome Measures

Jacob Vinson

Channing Paller, MD

Heather Cheng, MD

Heather Cheng, MD, PhD

PROMISE aims to create a comprehensive nationwide registry of prostate cancer patients with germline pathogenic variants by prospectively screening approximately 5,000 subjects with a confirmed prostate cancer diagnosis, either through tissue biopsy, PSA greater than 100 ng/dL and/or radiographic evidence of disease and receiving systemic therapy for prostate cancer. Patients at all stages of disease will be welcome to participate in the PROMISE Registry.

Participants will be recruited \& screened over a five-year period. Study participants will be asked to provide a saliva sample to be tested for germline cancer risk variants through Color Health. If the results identify a pathogenic or likely pathogenic variant, an appointment with a genetic counselor from Color Health will be scheduled to discuss the results.

Participants will complete a baseline demographic survey that includes self-reported health history, family history of cancer and standardized patient reported outcome (PRO) measures.

PROMISE Registry staff will request medical records from the participant's cancer care provider(s) for the purpose of obtaining clinical data.

Participants will receive bi-annual newsletters offering information on new developments in treatment and research opportunities, including clinical trials, associated with genetic variants.

Eligible participants (those with target germline mutations) will be followed every 6 months to obtain updated health records data and patient-reported outcomes data. Participants will be followed for a minimum of 15 years.

The PROMISE registry will help identify prostate cancer patients with pathogenic variants to learn more about how these variants affect patient outcomes. Ultimately, we hope to help patients learn more about their disease and the treatments that they may derive the most benefit from, including the germline genetic biomarker-based clinical trials they may be eligible for.

For more information, visit the study website at: prostatecancerpromise.org

PROMISE Registry: A Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness

Frequency of having at least one germline pathogenic or likely pathogenic variant in a cancer risk gene based on the number of subjects screened.

Frequency of pathogenic or likely pathogenic germline variants of interest in subjects with prostate cancer. We will estimate the frequency of having each of the germline pathogenic or likely pathogenic variant in the cancer risk genes based on the number of subjects screened in each subpopulation.

Identify and recruit a control group of patients with a VUS in their clinical or research results in the following genes: ATM, ATR, BARD1, BRCA1, BRCA2, FAM175A, GEN1, HOXB13, MRE11A, PALB2 and XRCC2.

Collect data on disease characteristics and examine the association between disease characteristics and pathogenic and likely pathogenic germline variants and VUS of interest.

Collect PRO measures associated with genetic testing in subjects with prostate cancer using the validated EORTC QLQ-C30.

Collect longitudinal outcome data on subjects with pathogenic and likely pathogenic germline variants and VUS of interest, for specific treatments, treatment sequences or therapy combinations used for treating prostate cancer.

Compare overall survival in subjects with pathogenic and likely pathogenic germline variants of interest and subjects with VUS.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Improving Germline Testing in At-Risk Patients With Prostate Cancer	NCT05470036	Prostate Cancer	Educational int...	18 Years -	University of California, San Diego
Improving Germline Testing in At-Risk Patients With Prostate Cancer	NCT05470036	Prostate Cancer	Educational int...	18 Years -	University of California, San Diego
Molecular and Epidemiological Risk Factors in the Development of Gastric Cancer	NCT04600466	Gastric Cancer	Molecular testi... Germline Testin... Survey	18 Years -	The University of Texas Health Science Center at San Antonio
Care Plans for Cancer Predisposition	NCT05736497	Genetic Predisp...	Digital Care Pl...	12 Years -	Children's Hospital of Philadelphia
PROMISE Registry: A Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness	NCT04995198	Prostate Cancer	Genetic Testing Genetic Counsel... Patient Reporte...	18 Years -	Prostate Cancer Clinical Trials Consortium

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