Klinisk prøve på Idiopatisk lungefibrose (IPF), Familiær lungefibrose, Telomer sykdom, Progressiv lungefibrose, Interstitiell lungesykdom på grunn av systemisk sykdom (telomerbiologiforstyrrelse) - Klinisk prøveregister

Studieoversikt

Status

Aktiv, ikke rekrutterende

Forhold

Detaljert beskrivelse

Familial pulmonary fibrosis (FPF) is a genetically driven subset of fibrosing interstitial lung diseases (ILDs) characterised by heterogeneous phenotypes, variable clinical trajectories, and limited evidence to guide prognosis and treatment. Although antifibrotic therapies are effective in idiopathic pulmonary fibrosis (IPF) and progressive pulmonary fibrosis (PPF), data in FPF, particularly from European populations, remain scarce. The SHIFT (Hereditary Influences on Pulmonary Fibrosis Trajectories) study aims to prospectively characterize disease progression, treatment response, and outcomes in a national Italian cohort.

SHIFT is a prospective, multicenter, observational cohort study enrolling adults (≥18 years) with ILD on high-resolution computed tomography and genetic findings consistent with FPF. Participants are recruited from specialized ILD referral centers across Italy and followed every 6 months for up to 5 years. Diagnostic attribution is standardized through multidisciplinary discussion using a structured confidence framework. All treatments are prescribed according to routine clinical practice. The primary endpoint is annual relative decline in forced vital capacity (FVC). Secondary endpoints include longitudinal changes in diffusing capacity (DLCO), treatment effectiveness and safety, mortality, transplant-free survival, cancer incidence, and genotype-phenotype and genotype-treatment response associations. Longitudinal data will be analyzed using mixed-effects models, and time-to-event outcomes using survival methods. Multivariable analyses and sensitivity analyses will address confounding.

Studietype

Observasjonsmessig

Registrering (Antatt)

250

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiesteder

Italia
- Italy
  - Rozzano, Italy, Italia, 20089
    - Francesco Amati

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

Voksen
Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

Patients with ILDs discussed in the multidisciplinary discussion to define FPF. Cases discussed will be documented using a standard CRF that detailed complete medical history including genetic test, physical examination, laboratory test results, pulmonary function test (PFT) results and, eventually, lung biopsy results and/or bronchoalveolar lavage (BAL) results.

Pre-MDD diagnoses will be based on the referring pulmonologist's diagnosis and current consensus classification for ILDs.

Post-MDD diagnosis will be classified according to Ryerson confidence terminology, with "confident diagnosis" reserved for >90% clinical likelihood or a provisional diagnosis which was categorized as "high confidence" (70-89% likelihood) or "low confidence" (51-69% likelihood). Patients with less than 50% diagnostic confidence level post-MDD will be categorized as "unclassifiable ILD".

Beskrivelse

Inclusion Criteria:

A HRCT scan consistent with ILD diagnosis
Age over 18 years old
A genetic test proved variant or a polymorphism consistent with a diagnosis of FPF
Ability to give informed consent for the inclusion in the study

Exclusion Criteria:

Patients unable to perform pulmonary function tests

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Antall grupper / kohorter

1

Kohorter og intervensjoner

Gruppe / Kohort
Familial pulmonary fibrosis Eligible participants will be adults (≥18 years) with ILD documented on HRCT and with a positive genetic test, defined as the presence of rare variants or susceptibility polymorphisms consistent with the diagnosis of FPF.

Hva måler studien?

Primære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
annual relative FVC decline over the observation period Tidsramme: Annual for 5 years	The annual relative decline is defined as the difference between the final and the initial FVC value divided by the initial value, and it will be calculated for each year and for the entire follow-up period.	Annual for 5 years

Sekundære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
relative reduced annual FVC decline when compared to FPF patients treated with immunomodulator agents and FPF patients not treated in a 5-years period of FU. Tidsramme: 5 years	relative reduced annual FVC decline when compared to FPF patients treated with immunomodulator agents and FPF patients not treated in a 5-years period of FU.	5 years
mortality Tidsramme: 5 years	mortality	5 years
Annual relative DLCO decline Tidsramme: 5 years	Annual relative DLCO decline: The annual relative decline is defined as the difference between the final and the initial DLCO value divided by the initial value, and it will be calculated for each year and for the entire follow-up period.	5 years
incidence of lung and non-lung cancer Tidsramme: 5 years	incidence of lung and non-lung cancer	5 years

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

Istituto Clinico Humanitas

Samarbeidspartnere

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

University of Siena

Ospedale San Paolo

Etterforskere

Hovedetterforsker: Francesco Amati, MD, Humanitas Research Hospital IRCCS, Rozzano-Milan

Publikasjoner og nyttige lenker

Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.

Generelle publikasjoner

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

1. april 2026

Primær fullføring (Antatt)

1. desember 2034

Studiet fullført (Antatt)

1. desember 2034

Datoer for studieregistrering

Først innsendt

20. april 2026

Først innsendt som oppfylte QC-kriteriene

5. mai 2026

Først lagt ut (Faktiske)

12. mai 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)