GEN-FPF: Ailesel Pulmoner Fibrozisin Genetik İncelemesi

Sade dilde özet

Bu çalışma, ailesel pulmoner fibrozisin (familial pulmonary fibrosis, FPF) genetik temellerini incelemeyi amaçlamaktadır. Çalışmaya, aynı aileden pulmoner fibrozis tanısı olan en az iki birey ile etkilenmemiş birinci derece akrabaları ve karşılaştırma için idiyopatik pulmoner fibrozis (idiopathic pulmonary fibrosis, IPF) hastaları alınmaktadır. Bu, faz uygulanmayan bir çalışmadır ve halen katılımcı almaktadır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

N/A

Durum

Katılımcı alıyor

Sponsor

Fondazione IRCCS Policlinico San Matteo di Pavia

Başlangıç

17.09.2025

Tahmini bitiş

01.09.2028

Ülkeler

Italy

İlgili genler

Merkezler

• Pavia, Italy

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

Diagnosis of Familial Pulmonary Fibrosis (FPF):

At least two individuals from the same family (first-degree relatives) diagnosed with pulmonary fibrosis based on clinical, radiological, or histopathological criteria (e.g., HRCT pattern consistent with usual interstitial pneumonia, UIP).

Definite or probable FPF diagnosis, according to international classification criteria and verified family history of disease.

Age:

Adults aged 18 years or older at the time of enrollment.

Informed Consent:

Ability and willingness to provide written informed consent (or consent provided by a legally authorized representative).

Willingness to participate in genetic testing, clinical evaluations, and longitudinal follow-up.

Availability of Family Members:

Affected family members with pulmonary fibrosis willing to provide blood samples and clinical information.

Unaffected first-degree relatives willing to participate in genetic testing and family history documentation.

Idiopathic Pulmonary Fibrosis (IPF) Cohort:

Individuals with a confirmed diagnosis of idiopathic pulmonary fibrosis (IPF) according to ATS/ERS 2018 criteria, enrolled as a comparative (non-familial) cohort.

Exclusion Criteria:

Non-Familial Pulmonary Fibrosis:

Individuals with isolated, sporadic pulmonary fibrosis (without a family history) who are not part of the defined IPF control group.

Other Significant Pulmonary Diseases:

Presence of pulmonary diseases unrelated to fibrosis (e.g., chronic obstructive pulmonary disease, asthma, cystic fibrosis, or active pulmonary infection).

Refusal or Withdrawal of Consent:

Individuals unwilling to provide or maintain informed consent for participation, genetic testing, or long-term data use.