家族性非髄様甲状腺がんの臨床および遺伝子研究
Background:
- Researchers are studying types of thyroid cancer that seem to cluster in families. Non-medullary thyroid cancer accounts for the vast majority of all types of thyroid cancer, but little is known about possible genes that may cause the cancer. More research is needed to develop the best ways to screen for familial non-medullary thyroid cancer (FNMTC) so that it can be diagnosed and treated at an early stage.
Objectives:
- To evaluate the natural history of FNMTC.
- To determine the best screening strategy for FNMTC.
- To identify genes that may indicate susceptibility to FNMTC.
Eligibility:
- Individuals at least 7 years of age who have two first-degree relatives (e.g., parents, children, siblings) who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer.
Design:
- Participants will be evaluated by family history pedigree, physical examination, imaging (including possible neck ultrasound and radioactive iodine scans), and laboratory testing.
- Participants who agree to have blood or other biological samples collected will be asked to enroll in an additional study to provide the appropriate samples and tissues.
- After the initial study evaluation, participants who are not found to have a malignant thyroid tumor will be re-screened every year with non-invasive imaging studies. Participants who are found to have a malignant thyroid tumor will be informed of possible treatment options.
調査の概要
状態
条件
詳細な説明
Study Description:
This is a prospective cohort study of individuals with or at risk for non-medullary thyroid cancer. Individuals will be studied over time within the context of their families in order to quantify prospective risks of cancers in family members, to establish the natural history of FNMTC, define the spectrum of diseases within the families, to identify precursor states, to try to assess the contribution of genetic and environmental components of risk, and to develop effective screening strategies.
Objectives:
- To evaluate the natural history of familial non-medullary thyroid cancer (FNMTC).
- To determine the best screening strategy for FNMTC.
- To identify susceptibility gene(s) for FNMTC.
Endpoints:
Not applicable
研究の種類
入学 (推定)
連絡先と場所
研究連絡先
- 名前:Joanna Klubo-Gwiezdzinska, M.D.
- 電話番号:(301) 496-5052
- メール:joanna.klubo-gwiezdzinska@nih.gov
研究連絡先のバックアップ
- 名前:Padmasree Veeraraghavan, R.N.
- 電話番号:(301) 451-7710
- メール:ncieobinquiry@mail.nih.gov
研究場所
-
-
Maryland
-
Bethesda、Maryland、アメリカ、20892
- 募集
- National Institutes of Health Clinical Center
-
コンタクト:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- 電話番号:TTY dial 711 800-411-1222
- メール:ccopr@nih.gov
-
-
参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
An individual with 2 first-degree relatives who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer (Note: as this is a familial study, subjects do not need to present with the disease) OR Any member of an affected family. (Note: for this study, an affected family is defined as a family having 2 or more 1st degree relatives with a documented diagnosis of FNMTC.)
説明
- INCLUSION CRITERIA:
Subjects will be selected for this protocol based on either a clinical diagnosis of non-medullary thyroid cancer and the presence of one family member with the disease or the presence of 2 living family members with this disease. Patient selection for this protocol will not be based on gender, race, or ethnic background.
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Adults or minor (>= 7 years+), males and females.
- An unaffected individual with (Bullet) 2 first-degree relatives who have or have had nonmedullary thyroid cancer
OR
-An affected individual with documented diagnosis of non-medullary thyroid cancer and (Bullet) one living relative with documented non-medullary thyroid cancer (Note: as this is a familial study, subjects do not need to present with the disease)
OR
- Any member of an affected family. (Note: for this study, an affected family is defined as a family having 2 or more 1st degree relatives with a documented diagnosis of FNMTC.)
- Adults must be able to understand and the willingness to sign the informed consent document.
- Adults must be able to complete the family history questionnaire.
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be not be allowed to enroll in this study:
-Subjects unwilling/unable to give informed consent.
研究計画
研究はどのように設計されていますか?
デザインの詳細
- 観測モデル:COHORT
- 時間の展望:PROSPECTIVE
コホートと介入
グループ/コホート |
|---|
|
1/ Cohort 1
Affected with non-medullary thyroid cancer |
|
2/ Cohort 2
Non-affected members of families with non-medullary thyroid cancer |
この研究は何を測定していますか?
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
To evaluate the natural history of FNMTC
時間枠:end of study
|
Evaluation the natural history of FNMTC |
end of study
|
協力者と研究者
捜査官
- 主任研究者:Joanna Klubo-Gwiezdzinska, M.D.、National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
出版物と役立つリンク
一般刊行物
- Chen AY, Jemal A, Ward EM. Increasing incidence of differentiated thyroid cancer in the United States, 1988-2005. Cancer. 2009 Aug 15;115(16):3801-7. doi: 10.1002/cncr.24416.
- Vriens MR, Suh I, Moses W, Kebebew E. Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer. Thyroid. 2009 Dec;19(12):1343-9. doi: 10.1089/thy.2009.1607.
- Ito Y, Kakudo K, Hirokawa M, Fukushima M, Yabuta T, Tomoda C, Inoue H, Kihara M, Higashiyama T, Uruno T, Takamura Y, Miya A, Kobayashi K, Matsuzuka F, Miyauchi A. Biological behavior and prognosis of familial papillary thyroid carcinoma. Surgery. 2009 Jan;145(1):100-5. doi: 10.1016/j.surg.2008.08.004. Epub 2008 Sep 21.
- Klubo-Gwiezdzinska J, Yang L, Merkel R, Patel D, Nilubol N, Merino MJ, Skarulis M, Sadowski SM, Kebebew E. Results of Screening in Familial Non-Medullary Thyroid Cancer. Thyroid. 2017 Aug;27(8):1017-1024. doi: 10.1089/thy.2016.0668. Epub 2017 Jul 19.
- Chuki E, Behairy N, Auh S, Makarewicz A, Uttarkar Vikram CN, Kumari S, Veeraraghavan P, Cochran C, Gubbi S, Klubo-Gwiezdzinska J. Comparison of Progression-Free Survival in Familial Non-Medullary Thyroid Cancer and Sporadic Differentiated Thyroid Cancer Patients. Thyroid. 2025 Jun;35(6):642-651. doi: 10.1089/thy.2024.0588. Epub 2025 May 20.
研究記録日
主要日程の研究
研究開始 (実際)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (推定)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
キーワード
その他の研究ID番号
- 100102
- 10-DK-0102
個々の参加者データ (IPD) の計画
個々の参加者データ (IPD) を共有する予定はありますか?
IPD プランの説明
Subject level data will be shared upon request after appropriate collaboration agreements are in place.
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
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