- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04009148
Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
January 24, 2024 updated by: NYU Langone Health
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis.
Likewise, genetic testing of ovarian cancer patients for these germline mutations provides invaluable information for families regarding cancer risk, genetic testing, and subsequently indication for risk-reducing surgery.
Cascade testing provides a unique opportunity to identify carriers of a deleterious BRCA mutation which can allow for surgical and chemoprevention of prevention of ovarian cancer.
There is currently no literature on the rates of referral for the family members.
Study Overview
Status
Recruiting
Conditions
Intervention / Treatment
Detailed Description
The objective of this study is to perform a pilot study, offering referral to a genetic counseling and genetic testing for family members of a probands known to have a mutation in BRCA1 or BRCA2.
In addition to BRCA1 and BRCA2, the NCCN suggests consideration of risk-reducing surgery for mutations in BRIP1, MSH2, MLH1, MSH6, PMS2, EPCAM, RAD51C, RAD51D, investigators will include these subjects as well in the study.
Study Type
Observational
Enrollment (Estimated)
120
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Ashley Brown
- Phone Number: 646 501 7629
- Email: Factsforfam@nyulangone.org
Study Locations
-
-
New York
-
New York, New York, United States, 10016
- Recruiting
- NYU Langone Health
-
Principal Investigator:
- Bhavana Pothuri, MD
-
Contact:
- Ashley Brown
- Phone Number: 646-501-7629
- Email: Factsforfam@nyulangone.org
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
18 years to 99 years (Adult, Older Adult)
Accepts Healthy Volunteers
Yes
Sampling Method
Probability Sample
Study Population
First or second degree faamily member with any of the following mutations: BRCA mutation, SH6, PMS2, EPCAM, RAD51C, RAD51D mutations
Description
Inclusion Criteria:
- All subjects must have a diagnosis of epithelial ovarian cancer, Fallopian tube caner or primary peritoneal cancer with a known pathogenic genetic mutation.
- All subjects must agree to participate.
- All subjects must have first or second degree relatives who have not been diagnosed with the same genetic mutation.
- A previous diagnosis of cancer in the subject's first or second degree relative is allowed.
Exclusion Criteria:
- Subjects whose first and/or second degree relatives have already been tested with the subject's known mutations, and no other viable family members are available for testing.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Successful Cascade Testing
Genetic counselor contacts relatives and offers participation in study.
Relative accepts and genetic testing in performed.
|
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
|
Relative Declines Genetic Testing
Genetic counselor contacts relatives and offers participation in study.
Relative declines and genetic testing is not performed.
|
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Establishing the CASCADE Cohort
Time Frame: 1 Year
|
Number of relatives with successful cascade testing
|
1 Year
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Principal Investigator: Bhavana Pothuri, MD, New York Langone Medical Center
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
March 1, 2019
Primary Completion (Estimated)
March 31, 2024
Study Completion (Estimated)
October 30, 2026
Study Registration Dates
First Submitted
July 2, 2019
First Submitted That Met QC Criteria
July 2, 2019
First Posted (Actual)
July 5, 2019
Study Record Updates
Last Update Posted (Actual)
January 25, 2024
Last Update Submitted That Met QC Criteria
January 24, 2024
Last Verified
January 1, 2024
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Skin Diseases
- Neoplasms
- Urogenital Neoplasms
- Neoplasms by Site
- Genital Neoplasms, Female
- Endocrine System Diseases
- Ovarian Diseases
- Adnexal Diseases
- Gonadal Disorders
- Endocrine Gland Neoplasms
- Breast Diseases
- Genetic Diseases, Inborn
- Neoplastic Syndromes, Hereditary
- Ovarian Neoplasms
- Breast Neoplasms
- Female Urogenital Diseases
- Female Urogenital Diseases and Pregnancy Complications
- Urogenital Diseases
- Genital Diseases
- Genital Diseases, Female
- Hereditary Breast and Ovarian Cancer Syndrome
Other Study ID Numbers
- 17-01135
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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