CTRI Number |
CTRI/2021/04/032972 [Registered on: 20/04/2021] Trial Registered Prospectively |
Last Modified On: |
30/08/2023 |
Post Graduate Thesis |
No |
Type of Trial |
Observational |
Type of Study
|
Cohort Study |
Study Design |
Other |
Public Title of Study
|
Genetic Counseling and Testing for Hereditary Breast Cancer |
Scientific Title of Study
|
Establishing Genetic Counseling and Genetic Testing for Familial and Hereditary Breast Cancers at a Tertiary Referral Center in India |
Trial Acronym |
|
Secondary IDs if Any
|
Secondary ID |
Identifier |
NIL |
NIL |
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
Name |
Rama Rao Damerla |
Designation |
Assistant Professor |
Affiliation |
Manipal Academy of Higher Education |
Address |
Dept. of Medical Geentics
KMC Manipal
Manipal Academy of Higher Education
Manipal Dept. of Medical Geentics
KMC Manipal
Manipal Academy of Higher Education
Manipal Udupi KARNATAKA 576104 India |
Phone |
9989955566 |
Fax |
|
Email |
rama.damerla@manipal.edu |
|
Details of Contact Person Scientific Query
|
Name |
Rama Rao Damerla |
Designation |
Assistant Professor |
Affiliation |
Manipal Academy of Higher Education |
Address |
Dept. of Medical Geentics
KMC Manipal
Manipal Academy of Higher Education
Manipal Dept. of Medical Geentics
KMC Manipal
Manipal Academy of Higher Education
Manipal Udupi KARNATAKA 576104 India |
Phone |
9989955566 |
Fax |
|
Email |
rama.damerla@manipal.edu |
|
Details of Contact Person Public Query
|
Name |
Rama Rao Damerla |
Designation |
Assistant Professor |
Affiliation |
Manipal Academy of Higher Education |
Address |
Dept. of Medical Geentics
KMC Manipal
Manipal Academy of Higher Education
Manipal Dept. of Medical Geentics
KMC Manipal
Manipal Academy of Higher Education
Manipal Udupi KARNATAKA 576104 India |
Phone |
9989955566 |
Fax |
|
Email |
rama.damerla@manipal.edu |
|
Source of Monetary or Material Support
|
Pfizer 2020 Breast Cancer Competitive Research Grant Program for AfME, Asia, LatAm |
|
Primary Sponsor
|
Name |
Pfizer |
Address |
235 East 42nd Street, New York, NY 10017 |
Type of Sponsor |
Pharmaceutical industry-Global |
|
Details of Secondary Sponsor
|
|
Countries of Recruitment
|
India |
Sites of Study
|
No of Sites = 1 |
Name of Principal
Investigator |
Name of Site |
Site Address |
Phone/Fax/Email |
Rama Rao Damerla |
Kasturba Medical College Manipal |
Dept of Medical Genetics
Central Research Labs
Kasturba Medical College Manipal Udupi KARNATAKA |
08202934038
rama.damerla@manipal.edu |
|
Details of Ethics Committee
|
No of Ethics Committees= 1 |
Name of Committee |
Approval Status |
Kasturba Medical College and Hospital Institutional Ethics Committee |
Approved |
|
Regulatory Clearance Status from DCGI
|
|
Health Condition / Problems Studied
|
Health Type |
Condition |
Patients |
(1) ICD-10 Condition: D05||Carcinoma in situ of breast, (2) ICD-10 Condition: C50||Malignant neoplasm of breast, |
|
Intervention / Comparator Agent
|
|
Inclusion Criteria
|
Age From |
20.00 Year(s) |
Age To |
75.00 Year(s) |
Gender |
Both |
Details |
The patients with suspected familial/hereditary breast cancers will be offered genetic counselling. Pre-test counseling will involve acquiring detailed family history and offer genetic testing based on criteria suggested by NCCN guidelines for Breast and Ovarian Cancer. We expect to recruit up to 100 patients with the following criteria in 2 years based on our current estimates of patient enrollment. Following is the criteria for our target audience relevant to patients regularly treated at our hospital.
According to NCCN guidelines, a patient with breast cancer with at least one of the following:
i. Diagnosed at age ≤50 y with unknown or limited family history; or a second breast cancer diagnosed at any age;
ii. ≥1 close blood relatives with breast, ovarian, pancreatic, or high-grade (Gleason score ≥7) or intraductal prostate cancer at any age
iii. Diagnosed at age ≤60 y with triple-negative breast cancer
iv. Diagnosed at any age with male breast cancer
v. ≥1 close relatives with breast cancer at age ≤50 y or ovarian, pancreatic, or
metastatic or intraductal prostate cancer at any age; or
vi. ≥2 close relatives with breast or prostate cancer (any grade) at any age.
vii. Patients with Triple Negative Breast Cancer
|
|
ExclusionCriteria |
Details |
Patients under 20 years old and patients or their families unable to decide for oneself will be excluded from the study. |
|
Method of Generating Random Sequence
|
Not Applicable |
Method of Concealment
|
Not Applicable |
Blinding/Masking
|
Not Applicable |
Primary Outcome
|
Outcome |
TimePoints |
a. Genetic counselling for familial and hereditary breast cancers.
b. Genetic testing for breast cancer patients.
c. Standard operating procedures for genetic counseling and multidisciplinary treatment management plan backed by genetics for breast cancer patients.
d. In-house design and validation of a cost-efficient multi gene panel for breast
cancer.
e. Develop necessary biobanking and clinical trials capability of our hospital and
research center.
|
Baseline |
|
Secondary Outcome
|
Outcome |
TimePoints |
Expanded breast cancer sequencing panel for genetic testing |
Baseline |
|
Target Sample Size
|
Total Sample Size="100" Sample Size from India="100"
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" |
Phase of Trial
|
N/A |
Date of First Enrollment (India)
|
01/05/2021 |
Date of Study Completion (India) |
Applicable only for Completed/Terminated trials |
Date of First Enrollment (Global) |
Date Missing |
Date of Study Completion (Global) |
Applicable only for Completed/Terminated trials |
Estimated Duration of Trial
|
Years="2" Months="6" Days="0" |
Recruitment Status of Trial (Global)
Modification(s)
|
Not Applicable |
Recruitment Status of Trial (India) |
Open to Recruitment |
Publication Details
|
Nil |
Individual Participant Data (IPD) Sharing Statement
|
Will individual participant data (IPD) be shared publicly (including data dictionaries)?
Response - YES
- What data in particular will be shared?
Response - Individual participant data that underlie the results reported in this article, after de-identification (text, tables, figures, and appendices).
- What additional supporting information will be shared?
Response - None of the above
- Who will be able to view these files?
Response - Anyone
- For what types of analyses will this data be available?
Response (Others) - Bioinformatic analysis of part of patient DNA sequencing data
- By what mechanism will data be made available?
Response (Others) - As a link on publication site.
- For how long will this data be available start date provided 31-12-2023 and end date provided 31-12-2028?
Response - Immediately following publication. No end date.
- Any URL or additional information regarding plan/policy for sharing IPD?
Additional Information - NIL
|
Brief Summary
|
Breast cancer remains the most prevalent cancer in women both in India and around the world. GLOBOCAN 2018 report suggests 14% of all new malignancies were breast cancers with a 5 year prevalence of around 400,000 cases. Women from low and middle income countries have been shown to have higher incidence of breast cancer and recent studies report a significant increase in morbidity and mortality related to cancers in India. It remains an unmet need in India to develop a multidisciplinary team for cancer treatment including genetic counseling and genetic diagnosis for successful management along with targeted therapies. The Kasturba Medical College and Hospital – Manipal, Manipal Academy of Higher Education, Manipal, India is a tertiary referral hospital with a dedicated cancer service called Manipal Comprehensive Cancer Care Center. There is a steady recruitment of breast cancer patients getting standard of care treatment. Though we have tumor boards in the hospital to ensure integration of various oncology departments to discuss each case on an individual basis and design a treatment plan, there is no genetic counseling and testing for identifying hereditary breast cancer patients. Our aim is to (1) Establish a dedicated biobank for cancer samples: A dedicated biobank for storage of blood and tumor biopsies is ideal for both germline and somatic mutation analysis. We will also collect blood samples collected after every milestone and follow up of the patient which will help develop research projects to identify and test biomarkers for early detection and monitor treatment by liquid biopsy approaches. (2) Integrate a robust genetic counseling component and genetic testing for breast cancer patients which would aid in screening, management and treatment of familial and hereditary breast cancer patients. (3) We plan to develop a novel library preparation strategy for capturing long genomics regions of target genes in breast cancer to be sequenced on the Oxford Nanopore NGS platform. We plan to recruit up to 100 breast cancer patients in 2 years with clinical parameters and history suggesting a familial origin according to NCCN guidelines. We will introduce genetic counseling for the patient and families along with genetic testing for mutations in BRCA1 and BRCA2. A later plan is to expand the panel to additional DNA repair genes involved in the pathophysiology of breast cancer using a next generation sequencing (NGS) panel on Nanopore sequencing technology. My previous training in genomics and liquid biopsy approaches for early cancer detection makes me an ideal candidate to be a lead investigator on the grant. Our ultimate goal is to not only help streamline treatment options but also allow for establishing necessary infrastructure and management plans for building capacity in conducting clinical trials. |