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Идёт набор NCT03160274

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

— Наблюдательное Pheochromocytoma Paraganglioma Inherited Cancer Syndrome Associated Conditions

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: Genetic screening.
Кому может быть актуально
Состояния в реестре: Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions. 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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Обзор

Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.

Подробное описание

Pheochromocytoma and paragangliomas are tumors originated from neuroectoderm cells located in the adrenal or extra-adrenal paraganglia, often leading to increased secretion of hormones known as catecholamines. These tumors represent a potentially curable cause of hypertension and are malignant in about 10-15% of the cases. Approximately 40% of patients with pheochromocytomas and/or paraganglioma have an inherited mutation. In addition, some patients and/or their relatives that are mutation carriers can develop other tumors as part of inherited cancer susceptibility syndromes. Therefore, detection of the susceptibility mutation is important for diagnosis and follow up. However, the susceptibility gene mutation cannot be identified in all cases. Studies that aim to identify novel susceptibility genes for pheochromocytoma are required.

The fist aim of this study is to identify novel pheochromocytoma susceptibility genes. Characterization of such gene(s) can improve our understanding of the pathogenesis pheochromocytoma and paraganglioma and have an impact in diagnosis, therapeutic planning and genetic screening of relatives.

The second aim of this project is to characterize relationships between mutations and clinical features that can provide insights into clinical surveillance and screening of at-risk individuals.

Вмешательства

  • Генная терапия Genetic screening
    Germline and/or tumor samples will be screened for mutations

Первичные конечные точки

  • Identification of germline driver mutation [Срок оценки: through study completion- average time approximately 6 months]
  • Identification of somatic driver mutation [Срок оценки: through study completion- average time approximately 6 months]
Вторичные конечные точки (2)
  • Identification of additional, potentially pathogenic genetic variants [Срок оценки: through study completion- average time approximately 6 months]
  • Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease [Срок оценки: through study completion- average time approximately 6 months]

Критерии участия

Критерии включения

  • diagnosis of pheochromocytoma and or paraganglioma
  • family member with diagnosis of pheochromocytoma and or paraganglioma
  • diagnosis of a pheochromocytoma- and or paraganglioma-associated condition
  • family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition

Критерии исключения

  • unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition

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

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

США · 1 центр
  • University of Texas Health Science Center — San Antonio

Публикации

  • Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014 Feb;14(2):108-19. doi: 10.1038/nrc3648. Epub 2014 Jan 20. PMID 24442145

Идентификаторы

NCT: NCT03160274 · HSC20060069H · 5R01GM114102 · R01CA264248-04S2

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗