Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Blood Collection From Individuals With Lung Disease for Genetic Studies (Qatar)

Summary: This is a research study where researchers are collecting blood to evaluate the genetic characteristics of individuals with chronic lung diseases, including asthma, COPD (chronic obstructive pulmonary disease), interstitial lung disease, cystic fibrosis, and lung cancer. The investigators hope to be able to identify an association between a genetic make-up in the blood samples and the risks of developing a particular lung disease, or severity of a lung disease. The findings of this study might be important to develop future preventative methods and potential treatments for the management of lung disease.

Detailed description: This protocol is designed to collect a small amount of blood for extraction of DNA (genetic material) for the study of the genetic basis of lung disease. The study population will include individuals with known lung diseases and controls without lung disease. Individuals in the study population will be individuals at the Hamad Medical Corporation, Qatar (HMC), as well as other individuals recruited for this study. In this protocol, researchers will survey medical records of patients with chronic lung disease, in order to study the clinical characteristics of these individuals, and the researchers will collect blood to evaluate the genetic characteristics of individuals with chronic lung diseases including asthma, and COPD (chronic obstructive pulmonary disease), pulmonary fibrosis, and lung cancer. The researchers will also collect blood samples of individuals without lung disease to serve as control.
  This protocol, to be carried out at Weill Cornell Medical College - Qatar and Hamad Medical Corporation, Qatar, parallels a similar approved protocol IRB #0508008095, entitled, "Collection of Blood for Gene Expression/Genomic Studies in Individuals with Chronic Lung Diseases", ongoing at Weill Cornell Medical College - New York.

Eligibility: Lung Disease group. Individuals with lung disease who fit the following criteria will be enrolled.
  Inclusion criteria
  -  Must provide informed consent
  -  Males and females, age 18 years and older
  -  Evidence of lung disease proven by at least one of the following: (1) symptoms consistent with pulmonary disease; (2) chest X-rays and/or chest CT consistent with lung disease; (3) pulmonary function tests consistent with lung disease; (4) lung biopsy consistent with lung disease; (5) family history of lung disease; and (6) diseases of organs with known association with lung disease; and (7) individuals suspected of history of lung diseased based on history and/or physical examination
  Exclusion criteria
  -  Individual refuses consent.
  Normal control group. For the purpose of this protocol, "normal" will include individuals without history of chronic lung disease, including asthma, and without recurrent or recent (within 3 months) acute pulmonary disease, and will be determined by the following criteria:
  Inclusion Criteria:
  -  Must provide informed consent.
  -  Males or females ages 18 years and older.
  -  Non-smokers, ex-smokers and smokers.
  Exclusion Criteria:
  -  Individual refuses consent.
  -  Individuals with history of chronic lung disease, including asthma or with recurrent or recent (within three months) acute pulmonary disease will not be accepted into the study.

Relevance to patient case: not relevant