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Идёт набор NCT04541654

Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress

— Наблюдательное Li-Fraumeni Syndrome TP53 Gene Mutation Hereditary Cancer Syndrome Clonal Hematopoiesis

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
В протоколе указаны: Data and Specimen Collection.
Кому может быть актуально
Состояния в реестре: Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis. Базовые параметры: Без ограничений · Все.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
США
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)

Обзор

The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).

Подробное описание

This research study looks to enroll as many people with LFS or TP53 gene variants as possible in order to:

* Better estimate cancer risks in individuals with TP53 variants or LFS, which is a rare condition. * Learn the range of cancer risks linked to TP53 variants to help individuals and families to improve our ability to counsel patients and families about cancer risks more accurately. * Improve opportunities for cancer prevention, early detection, and treatment. * Learn more about the meaning of TP53 variants in the blood that are not inherited (e.g. ACE/CHIP and mosaicism).

Study procedures will include:

* Collecting information from the participant's medical record and short questionnaires. * Collecting blood, saliva, eyebrow hair and tumor tissue samples (optional). * Sharing study information with family members (optional).

It is expected that about 1500 people will take part in this research study. Participants will be in this study until it closes or the participant withdraws consent.

The National Cancer Institute is providing funding for part of this study and is considered a study sponsor. They will require that some of the genetic information be made available to the research community without personal identifying information.

Вмешательства

  • Генная терапия Data and Specimen Collection
    * Provide research team and access to relevant medical records * Answer short questionnaires periodically * Consider consenting to other optional parts of the research such as: * Providing up to 3 tubes (15ml) of blood at or near the time of consent, as approved by treating physician (optional). * Provide a saliva sample (optional). * Provide eyebrow hairs for analysis of DNA from the bulb (15-20 eyebrow plucks) (optional). * Provide permission for obtainment of stored tissue specimens from canc

Первичные конечные точки

  • Repository of specimens and data [Срок оценки: 5 years or Study closure]
Вторичные конечные точки (3)
  • Estimation of Cancer Risks in TP53 mutation carriers [Срок оценки: 5 years or Study closure]
  • Modified segregation analysis [Срок оценки: 5 years or Study closure]
  • Estimation of risk for the more commonly occurring cancers associated with inherited TP53 mutations [Срок оценки: 5 years or Study closure]

Критерии участия

Критерии включения

  • Individuals with a TP53 pathogenic or likely pathogenic variant identified in blood or saliva,
  • Individuals with variants of uncertain significance in TP53 may be eligible at the PI's discretion,
  • Blood relatives of individuals with a TP53 variant, who may be presumed obligate carriers or healthy controls,
  • Individuals who meet Classic or Chompret LFS criteria whether or not they have a TP53 gene variant,
  • Individuals may enroll their deceased relatives in the study.
  • Individuals with a known TP53 variant that is not LFS, but rather ACE, CHIP, or mosaicism.
  • Individuals participating in other LFS studies can still enroll in LiFT UP. Investigators may be collaborators.

Критерии исключения

  • Individuals who decline to sign consent
  • Individuals who are unable to give consent or assent and are without a designated healthcare proxy

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Семейное

Центры проведения

США · 3 центра
  • Boston Children's Hospital — Boston
  • Brigham and Women's Hospital — Boston
  • Judy E. Garber — Boston

Публикации

  • de Andrade KC, Lee EE, Tookmanian EM, Kesserwan CA, Manfredi JJ, Hatton JN, Loukissas JK, Zavadil J, Zhou L, Olivier M, Frone MN, Shahzada O, Longabaugh WJR, Kratz CP, Malkin D, Hainaut P, Savage SA. The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute. Cell Death Differ. 2022 May;29(5):1071-1073. doi: 10.1038/s41418-022-00976-3. Ep PMID 35352025

Идентификаторы

NCT: NCT04541654 · 20-226 · R01CA242218

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗