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Набор скоро начнётся NCT06521125

Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

— Наблюдательное Familial Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis

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: High resolution Computed Tomography (HRCT) scans of the Chest, Pulmonary Function Testing (PFTs), Digital lung sounds auscultation, Laboratory Assessments.
Кому может быть актуально
Состояния в реестре: Familial Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis. Базовые параметры: от 18 лет · 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
Список центров уточняется — проверьте первичный протокол.
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

Background: Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of interstitial lung disease. Between 2% and 20% of patients with IPF have a family history of the disease, which is considered the strongest risk factor. Therefore, genetic testing has been increasingly considered as a potential tool to identify patients at risk of developing IPF. According to some studies, genetic testing (particularly of MUC5B and TERT mutations) could be useful to rapidly identify unidentified and/or asymptomatic individuals (in families as well as in the general population) who have interstitial lung anomalies (ILA) that may indicate a initial stage of pulmonary fibrosis. Finding efficient screening methods and associated targeted treatments for IPF may be essential to improving the prognosis and quality of life of those suffering from this disease. Objectives of the study: The study involves two populations of study subjects: * patients with FPF and sporadic IPF * first-degree relatives of patients with FPF and sporadic IPF (biological relatives, not spouses) The primary objective is to determine the prevalence rates of interstitial lung abnormalities in at-risk relatives of patient with IPF and FPF. Study design: Multicenter, cross-sectional study without drug and without device conducted in two major Italian tertiary referral hospitals. The entire project is expected to last 24 months.

Вмешательства

  • Диагностический тест High resolution Computed Tomography (HRCT) scans of the Chest
    A chest high-resolution computed tomography (HRCT) scan will be performed
  • Диагностический тест Pulmonary Function Testing (PFTs)
    Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed
  • Диагностический тест Digital lung sounds auscultation
    Lung sounds will be recorded using a manual approach with a digital stethoscope
  • Диагностический тест Laboratory Assessments
    Clinical laboratory tests will be collected from each participant
  • Генная терапия DNA sequencing
    A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing

Первичные конечные точки

  • Prevalence of ILA [Срок оценки: At subject enrollment]
Вторичные конечные точки (1)
  • Association between ILA and genetic variants [Срок оценки: At subject enrollment]

Критерии участия

Criteria for PATIENTS:

Критерии включения

  • patients aged ≥18 years when signing the informed consent
  • diagnosis of IPF based on 2022 ATS/ERS/JRS/ALAT Guidelines as confirmed by the investigator based on chest HRCT scan and if available surgical lung biopsy
  • diagnosis of FPF defined as the presence of fibrotic ILD in at least two members of the same biological family
  • at least one 1st degree relative >40 years of age.

Критерии исключения

  • patients with Interstitial Lung Diseases other than Idiopathic Pulmonary Fibrosis, including but not limited to patients with granulomatous lung disease, autoimmune/collagen vascular disease associated interstitial lung disease, and drug induced interstitial lung disease
  • unwilling or unable to sign informed consent

Criteria for FIRST DEGREE BIOLOGICAL RELATIVES:

Критерии включения

a. subjects aged ≥40 years

Критерии исключения

  • previous diagnosis of IPF
  • a history of severe or poorly controlled anxiety, severe or poorly controlled depression according to the opinion of the investigators, suicidal ideation, or other psychiatric illness requiring hospitalization
  • unwilling or unable to sign informed consent 400 first-degree relatives of participating patients will be recruited

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

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения
Семейное

Центры проведения

Список центров уточняется — проверьте первичный протокол.

Идентификаторы

NCT: NCT06521125 · 6869

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗