- ICH GCP
- Amerikanska kliniska prövningsregistret
- Klinisk prövning NCT02565004
Clinical and Laboratory Analysis of Familial Cancer
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.
Studieöversikt
Status
Betingelser
Detaljerad beskrivning
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).
Studietyp
Inskrivning (Faktisk)
Kontakter och platser
Studieorter
-
-
Maryland
-
Bethesda, Maryland, Förenta staterna, 20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
-
-
Deltagandekriterier
Urvalskriterier
Åldrar som är berättigade till studier
Tar emot friska volontärer
Kön som är behöriga för studier
Testmetod
Studera befolkning
Beskrivning
- INCLUSION CRITERIA:
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
EXCLUSION CRITERIA:
Inability to provide informed consent.
Studieplan
Hur är studien utformad?
Designdetaljer
- Observationsmodeller: Familjebaserat
- Tidsperspektiv: Tvärsnitt
Kohorter och interventioner
Grupp / Kohort |
---|
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.
|
Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
---|---|---|
investigate relationship of familial genetic mutation to a particular cancer
Tidsram: 1 year
|
linkage analysis performed for familial clustering of malignant and pre-malignant disease in families
|
1 year
|
Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
---|---|---|
To assess the phenotype of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)
Tidsram: 1-2 years
|
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.
|
1-2 years
|
Samarbetspartners och utredare
Sponsor
Utredare
- Huvudutredare: Kathleen Calzone, Ph.D., National Cancer Institute (NCI)
Publikationer och användbara länkar
Användbara länkar
Studieavstämningsdatum
Studera stora datum
Studiestart (Faktisk)
Primärt slutförande (Faktisk)
Avslutad studie (Faktisk)
Studieregistreringsdatum
Först inskickad
Först inskickad som uppfyllde QC-kriterierna
Första postat (Uppskatta)
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
Senast verifierad
Mer information
Termer relaterade till denna studie
Nyckelord
Andra studie-ID-nummer
- 150204
- 15-C-0204
Läkemedels- och apparatinformation, studiedokument
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