Study and Monitoring of Multiple Endocrine Neoplasia Type 1
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: Questionnaires.
- Кому может быть актуально
- Состояния в реестре: MEN1. 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
- Франция
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
Не всё понятно в терминах? Прочитайте наш гид для пациентов →
Обзор
Multiple Endocrine Neoplasia Type I (MEN1) is a rare autosomal dominant disorder, predisposing sufferers to the development of endocrine tumors. The three most commont endocrine disorders of MEN1 are the secretory tumours of the parathyroid, pituitary gland and pancreas, in addition to which other tumours may be observed. The diagnosis of MEN1 is essential for 1) appropriate therapeutic management of proven endocrine disorders, 2) screening for other endocrine and non-endocrine tumours, 3) family screening of affected relatives and 4) monitoring of patients who have been diagnosed. Undiagnosed MEN1 is one of the reasons for therapeutic failure in the management of endocrine damage. Detection is therefore of major importance, and any improvement in early diagnosis can improve management. The natural history of the disease in all its clinical forms remains poorly understood, with published studies of selected or small populations. There are still clinical forms that are difficult to link to the syndrome. These clinical forms need to be specified in order to ensure optimal management. Only a large cohort will lead to the identification of the various forms of this condition and clarify its prognosis.
Вмешательства
- Другое Questionnaires
Questionnaires about: * Socio-professional situation * Lifestyle * Health * NME 1 * specific breast cancer survey * Imaging
Первичные конечные точки
- risk of occurrence of each type of MEN1 related tumors [Срок оценки: Through study completion, an average of 10 years]
- genotype-phenotype correlation : association of specific mutations (genotype) with the clinical manifestations (phenotype) [Срок оценки: Through study completion, an average of 10 years]
- overall survival [Срок оценки: Through study completion, an average of 10 years]
- specific survival and life expectancy [Срок оценки: Through study completion, an average of 10 years]
- age at Men1 diagnosis globally and according to the initial presentation [Срок оценки: Through study completion, an average of 10 years]
- treatment description of each type of MEN1 related tumors as well as their impact on survival and on disease control [Срок оценки: Through study completion, an average of 10 years]
Критерии участия
Критерии включения
SYMPTOMATIC PATIENTS
- person (adult or minor) who has not opposed participation
- if the patient is a minor, the parents must not oppose their child's participation,
- at least two of the three main types of lesions (parathyroid, pancreas, pituitary gland)
- OR a known isolated tumor, main type or not, associated with the gene mutation of the NEM1 locus on chromosome 11q13
- OR an isolated tumor, main type or not, in an individual with a confirmed family history of NEM1
ASYMPTOMATIC PATIENTS WITH A MUTATION
\- Presence of a characteristic mutation of NEM1
Exclusion Criteria: NA
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Франция · 1 центр
- CHU Dijon Bourgogne — Dijon
Идентификаторы
NCT: NCT03966612 · GOUDET 2018