Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 126
- 试验地点
- 1
- 主要终点
- Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS)
研究概览
简要总结
Pulmonary fibrosis (PF) is a progressive lung disease marked by tissue scarring and impaired breathing. Familial pulmonary fibrosis (FPF) makes up 10-20% of PF cases and shares features with idiopathic PF (IPF), but the genetic causes of FPF are not fully understood.
This study focuses on uncovering the genetic basis of FPF by analyzing families with multiple affected members. It targets genes involved in fibrogenesis and surfactant disorders, as familial cases often appear earlier and progress more rapidly than sporadic ones.
Understanding FPF genetics could:
- Identify new genetic markers for early diagnosis and prognosis.
- Improve genetic counseling and preventive strategies for affected families.
- Reveal therapeutic targets for personalized treatments.
- Highlight shared molecular pathways between familial and idiopathic PF, potentially benefiting a broader patient group.
In summary, the study aims to deepen our understanding of FPF genetics to improve diagnosis, counseling, and treatment for both familial and idiopathic forms of pulmonary fibrosis.
详细描述
observational study , longitudinal retrospective
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
- •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.
排除标准
- •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.
结局指标
主要结局
Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS)
时间窗: within 24 months of participant enrollment
dentification and classification of genetic variants detected in genes associated with familial pulmonary fibrosis (FPF) and surfactant metabolism (e.g., SFTPC, SFTPA2, ABCA3, MUC5B). Variants will be classified according to ACMG guidelines and reported as counts and frequencies in the study population.
次要结局
未报告次要终点
研究者
Ilaria Campo
MD
Fondazione IRCCS Policlinico San Matteo di Pavia