CancerNCT02565004
Clinical and Laboratory Analysis of Familial Cancer
An observational study of Cancer, run by National Cancer Institute (NCI) at 1 site in United States.
Trial summary
Background: DNA makes up the instruction book for people s cells. Cancer is a disease caused by DNA changes that build up and affect cell function. Researchers want to learn more about what may cause cancer by testing the DNA of people with the disease and their family members. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Cancer
- How many people
- 19 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Sep 2015to 31 Jul 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants or family members of participants previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079 (must be 10 years old or older, may be pregnant)
Who may be able to join
- Participants must meet one of the following:
- Have been previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079; OR
- Be family members of patients previously enrolled on the familial genetic analysis arm of 09-C-0079; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved laboratory.
- Participants must be 10 years of age or older
Who cannot join
- Inability to provide informed consent.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Background:
DNA makes up the instruction book for people s cells. Cancer is a disease caused by DNA changes that build up and affect cell function. Researchers want to learn more about what may cause cancer by testing the DNA of people with the disease and their family members.
Read more
Objective:
To find DNA changes that may be inherited and may cause or influence whether a person gets cancer. To study families with clusters of cancer to find out if there is a DNA mutation specific to certain cancers.
Eligibility:
People 18 years of age and older who:
Participated in the familial genetic part of NIH study 09-C-0079, a previous study or had family members enrolled in this study
Design:
Participants may have been screened in the previous study. They will give permission for researchers to use their data and their tissue or blood samples collected in the study.
Participants may give blood samples.
At each stage of testing, participants will meet with a genetics health care provider. The provider will explain the tests and answer questions.
If researchers find a DNA change that might increase the risk for cancer or other health issues, they will confirm this result in a testing lab. This will require a blood sample.
Participants personal DNA data and health information will be put in a database for research purposes.
Read the detailed description
Background:
- This study is to continue the analysis begun on 09C0079 which was focused on identification of the genetic mutation associated with a new gastric polyposis syndrome, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS).
- GAPPS is an autosomal dominant gastric polyposis syndrome that confers a substantial risk for gastric adenocarcinoma and has been found to be associated with germline point variants in APC promoter 1B.
- At this time, any non-gastric phenotype associated with GAPPS is unknown and is being explored using a phenotyping survey interview.
Objective
- To specifically investigate families with clusters of cancer to determine if there is a potential familial genetic mutation specific to a particular cancer and if present, to compare these genetic abnormalities with individuals from the same family without cancer.
Eligibility:
- Participants must meet one of the following:
- Have been previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079; OR
- Be family members of patients previously enrolled on the familial genetic analysis arm of 09-C-0079; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved laboratory.
- Participants must be 10 years of age or older
Design:
- This protocol was originally opened to continue same use of research that was approved under protocol 09-C-0079, to analyze the data for publication, and to provide participants with any results of clinical and analytic validity and clinical utility.
- In a subsequent amendment carriers of a germline APC promoter 1B variant will participate in a phenotyping assessment survey interview to assess the phenotype of Gastric Adenocarcinoma and Proximal Polypopsis of the Stomach (GAPPS).
- Conditions
- Cancer
- Keywords
- Genetic, Sample Collection, Natural History
- Medical subject headings
- Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Patients who were enrolled on protocol 09-C-0079, or family members of patients who were enrolled on protocol 09-C-0079 | |
| 2 | Individuals found to harbor a germline APC promoter 1B variant not previously enrolled in Cohort l. |
What is being measured
The primary outcome is the main question the study is designed to answer.
investigate relationship of familial genetic mutation to a particular cancer
linkage analysis performed for familial clustering of malignant and pre-malignant disease in families
Measured: 1 year
Secondary outcomes (1)
To assess the phenotype of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)
Descriptive statistics such as median, mean and standard deviation will be calculated for all continuous quantitative variables, including age of diagnosis, frequency and duration of symptoms and medication dosage. Frequency data will be calculated for categorical variables.
Measured: 1-2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Oct 2015 (estimated)
- Study start28 Sep 2015
- Primary completion31 Jul 2020
- Study completion31 Jul 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CancerStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 19 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Kathleen Calzone, Ph.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02565004
- Sponsor's protocol ID
- 150204
- Other IDs
- 15-C-0204
- Status last verified
- May 2022
- First submitted
- 30 Sep 2015
- Last updated
- 16 May 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Laboratory Analysis of Familial Cancer
- ClinicalTrials.gov ID
- NCT02565004
- Acronym / sponsor ID
- 150204
- Conditions
- Cancer
- Keywords
- Genetic, Sample Collection, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 19 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 28 Sep 2015 (actual)
- Primary completion
- 31 Jul 2020 (actual)
- Study completion
- 31 Jul 2020 (actual)
- First posted
- 1 Oct 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
DNA makes up the instruction book for people s cells. Cancer is a disease caused by DNA changes that build up and affect cell function. Researchers want to learn more about what may cause cancer by testing the DNA of people with the disease and their family members.
Objective:
To find DNA changes that may be inherited and may cause or influence whether a person gets cancer. To study families with clusters of cancer to find out if there is a DNA mutation specific to certain cancers.
Eligibility:
People 18 years of age and older who:
Participated in the familial genetic part of NIH study 09-C-0079, a previous study or had family members enrolled in this study
Design:
Participants may have been screened in the previous study. They will give permission for researchers to use their data and their tissue or blood samples collected in the study.
Participants may give blood samples.
At each stage of testing, participants will meet with a genetics health care provider. The provider will explain the tests and answer questions.
If researchers find a DNA change that might increase the risk for cancer or other health issues, they will confirm this result in a testing lab. This will require a blood sample.
Participants personal DNA data and health information will be put in a database for research purposes.
Detailed description
Background:
- This study is to continue the analysis begun on 09C0079 which was focused on identification of the genetic mutation associated with a new gastric polyposis syndrome, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS).
- GAPPS is an autosomal dominant gastric polyposis syndrome that confers a substantial risk for gastric adenocarcinoma and has been found to be associated with germline point variants in APC promoter 1B.
- At this time, any non-gastric phenotype associated with GAPPS is unknown and is being explored using a phenotyping survey interview.
Objective
- To specifically investigate families with clusters of cancer to determine if there is a potential familial genetic mutation specific to a particular cancer and if present, to compare these genetic abnormalities with individuals from the same family without cancer.
Eligibility:
- Participants must meet one of the following:
- Have been previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079; OR
- Be family members of patients previously enrolled on the familial genetic analysis arm of 09-C-0079; OR
- Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved laboratory.
- Participants must be 10 years of age or older
Design:
- This protocol was originally opened to continue same use of research that was approved under protocol 09-C-0079, to analyze the data for publication, and to provide participants with any results of clinical and analytic validity and clinical utility.
- In a subsequent amendment carriers of a germline APC promoter 1B variant will participate in a phenotyping assessment survey interview to assess the phenotype of Gastric Adenocarcinoma and Proximal Polypopsis of the Stomach (GAPPS).
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Patients who were enrolled on protocol 09-C-0079, or family members of patients who were enrolled on protocol 09-C-0079 |
| 2 | – | –Individuals found to harbor a germline APC promoter 1B variant not previously enrolled in Cohort l. |
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants or family members of participants previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079 (must be 10 years old or older, may be pregnant)
Key inclusion criteria (5 listed)
- Participants must meet one of the following:
- Participants must be 10 years of age or older
Key exclusion criteria (1 listed)
- Inability to provide informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
investigate relationship of familial genetic mutation to a particular cancer
Time frame: 1 year
linkage analysis performed for familial clustering of malignant and pre-malignant disease in families
1 secondary outcome
To assess the phenotype of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)
Time frame: 1-2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 May 2022.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kathleen Calzone, Ph.D. principal investigator
National Cancer Institute (NCI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cancer, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
investigate relationship of familial genetic mutation to a particular cancer (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 May 2022.