ランゲルハンス細胞および非ランゲルハンス細胞の組織球性腫瘍とキャッスルマン病の分子基盤
ランゲルハンス細胞および非ランゲルハンス細胞の組織球性腫瘍とキャッスルマン病の分子基盤の探索的解析
The purpose of this study is to use agnostic genomic evaluation using whole exome sequencing (WES) of a variety of rare hematologic diseases grouped under rare blood diseases and its variants to further elucidate the understanding of the chemistry of these disorders and identify potential actionable mutations that can be targeted with therapies in the context of clinical trials.
調査の概要
詳細な説明
The study team will examine genetic changes, also known as mutations, in the DNA of participants' blood, or if applicable, bone marrow specimen. These types of tests are increasingly used by doctors to improve the accuracy of diagnosis and make decisions during care. This study seeks to understand how many patients will benefit from this testing, and in what ways. The results of this portion of the study are placed in the individual's medical record and are communicated back to each participant.
研究の種類
入学 (推定)
段階
- 適用できない
連絡先と場所
研究場所
-
-
Ohio
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Cleveland、Ohio、アメリカ、44106-5065
- Cleveland Clinic, Case Comprehensive Cancer Center
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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
説明
Inclusion Criteria:
-
Must have histopathologic confirmation of the particular rare hematologic disease.
-
Diseases that will be considered as rare hematologic diseases for this study will include the following
- Langerhans cell histiocytosis (LCH)
- Erdhiem Chester disease (ECD)
- Rosai-Dorfman disease (RDD)
- Miscellaneous histiocytic entities -indeterminate dendritic cell tumor, interdigitating dendritic cell sarcoma, follicular dendritic cell sarcoma, fibroblastic reticular cell tumor
- Unicentric Castleman disease
- Multicentric Castleman disease including TAFRO
- Follicular Dendritic Cell sarcoma (FDCS)
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Newly diagnosed treatment naïve patients as well as patients who received prior therapies (e.g. chemotherapy, targeted therapy, surgery, or radiation) will be included. -Tissue specimens collected within the past 5 yearse will be considered acceptable for study inclusion will include the following
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Collected as part of the evaluation for diagnostic confirmation
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Tissue specimen or extracted DNA (from blood sample) banked in IRB approved tissue repositories and obtained within five years prior to the date of informed consent. -Tissue samples are planned to be collectedfrom previously stored surgical specimens already being stored in pathology lab
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Consent to have germline testing performed in parallel to tumor testingg)Patients willing to receive treatmen
Exclusion Criteria:
- Life expectancy of less than 6months
- Patient unwilling to have germline testing performed on peripheral blood or buccal mucosa
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
- 主な目的：ふるい分け
- 割り当て：なし
- 介入モデル：単一グループの割り当て
- マスキング：なし（オープンラベル）
武器と介入
参加者グループ / アーム |
介入・治療 |
|---|---|
|
実験的：Genomic analysis
When a participant's disorder was diagnosed, blood or tissue specimen was collected. A part of the tissue or blood will be sent to an outside company, Tempus, to be tested for specific genetic changes and the results will be sent back to participants' physician. |
Genetic testing of blood or tissue sample and limited medical information sent to an outside company. Database will link genome sequence data with human trait information, including cancer and other diseases, to be sent to participant's physician. |
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 |
|---|---|---|
|
Proportion of genomic analyses yielding genetic aberrations
時間枠：Up to 12 months from last participant accrued
|
Proportion of genomic analyses yielding actionable genetic aberrations. "Actionable" is defined as a mutation linked to an approved therapy in the particular disease under study or another disease, a known or suspected contraindication to a given therapy, or a clinical trial linked to the alteration |
Up to 12 months from last participant accrued
|
二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
生殖細胞系列の遺伝子異常をもたらすゲノム解析の割合
時間枠：最後の参加者が発生してから最大 12 か月
|
最後の参加者が発生してから最大 12 か月
|
|
|
Proportion of genomic analyses yielding actionable genetic aberrations
時間枠：Up to 12 months from last participant accrued
|
Actionable will be defined as a mutation linked to an approved therapy in the particular disease or another disease, a known or suspected contraindication to a given therapy, or a clinical trial linked to the alteration. |
Up to 12 months from last participant accrued
|
|
Referral rates for genetic counseling for germline mutations
時間枠：Up to 12 months from last participant accrued
|
Number of participants with germline mutations who were referred to genetic counseling through Cancer Genetics for their identified germline mutations |
Up to 12 months from last participant accrued
|
|
Completion rates of genetic counseling for germline mutations
時間枠：Up to 12 months from last participant accrued
|
Number of participants with germline mutations who were referred to, and underwent (completed) genetic counseling through Cancer Genetics. |
Up to 12 months from last participant accrued
|
協力者と研究者
捜査官
- 主任研究者：Sudipto Mukherjee, MD, PhD、Cleveland Clinic, Case Comprehensive Cancer Center
研究記録日
主要日程の研究
研究開始 (実際)
一次修了 (推定)
研究の完了 (推定)
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 (実際)
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
追加の関連 MeSH 用語
その他の研究ID番号
- CASE7Z20
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
Deidentified IPD will be shared to maintain patient confidentiality
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
米国で製造され、米国から輸出された製品。
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。