Inherited Thrombocytopenias: Discovering the "New" Forms That Affect Half of Patients and Developing an in Vitro Tool for Testing the Ability of New Drugs to Increase Platelet Production and Predicting the Response to Treatment in the Individual Patient
Inherited thrombocytopenias (ITs) are rare conditions characterized by low platelet count resulting in impaired hemostasis.
Recent advances revealed that several forms expose patients to the risk of developing additional and life-threatening disorders. Making a definite diagnosis is essential to identify patients' prognosis, personalize follow-up and treatment. Furthermore, Eltrombopag, an oral drug mimicking thrombopoietin (THPO), was able to increase the number of platelets in most of the few patients treated so far. Despite these advances, knowledge on ITs is still unsatisfactory, in that nearly half of patients have yet unknown forms. Moreover, the individual patient's response to Eltrombopag can't be predicted. This project wants to improve knowledge on ITs by two approaches: identification and characterization of new ITs; an in vitro bone marrow model not only for pre-clinical pharmacological studies of innovative drugs, but also for predicting individual response to treatment.
調査の概要
状態
詳細な説明
The major problems when dealing with Inherited thrombocytopenias (ITs) are:
- achieving a diagnosis of certainty;
- setting up a personalized and effective treatment.
a) Near 50% of subjects remain without a diagnosis because they don't fit the diagnostic criteria for any known IT and don't have mutations in the causative genes identified so far. Our project, aimed at identifying new ITs by whole exome sequencing(WES) of a large number of subjects with unknow forms, will fill this gap; b)We want to improve therapy for ITs, which is presently mainly based on platelet transfusion, by the identification of new drugs and the usage of an innovative tool to predict in vitro patients' response to different treatment, allowing us to personalize therapeutic approaches.
研究の種類
入学 (実際)
連絡先と場所
研究場所
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Pavia、イタリア、27100
- Medicina Generale 1, Fondazione IRCCS Policlinico San Matteo
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参加基準
適格基準
就学可能な年齢
- 子
- 大人
- 高齢者
健康ボランティアの受け入れ
サンプリング方法
調査対象母集団
説明
Inclusion Criteria:
- Exclusion of any known IT after the application of a validated diagnostic algorithm based on clinical and laboratory criteria;
- Absence of mutations in genes known to be causative for IT;
- Acquisition of written informed consent.
Exclusion Criteria:
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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
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 |
時間枠 |
|---|---|
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Identification and assessment of the causative role of candidate genes for new ITs
時間枠：3 years
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3 years
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協力者と研究者
研究記録日
主要日程の研究
研究開始 (実際)
一次修了 (実際)
研究の完了 (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 (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
その他の研究ID番号
- P_52405_2019
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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