Emphysema Research Registry; Screening Study and Genetic Testing

The Emphysema/COPD Research Center will enroll up to 3000 subjects at the University of Pittsburgh. The experimental procedures that will be conducted as a part of the Emphysema Research Registry include gathering basic personal information (e.g., name, address, phone number, etc.), asking basic screening questions (which may involve the examination of past, current, and future medical records with an authorized release and the collection of personally identifiable medical record information), completing two breathing questionnaires, performing screening lung function tests to determine breathing capacity and blood oxygen levels, to have blood drawn, to complete a measurement of leg muscle strength, and to have a measurement of body fat.

The breathing questionnaires are known as the St. George's Respiratory Questionnaire (SGRQ), the Medical Research Council Dyspnea Questionnaire (MRCDQ) and COPD assessment Test (CAT). These are paper and pencil questionnaires that inquire about respiratory symptoms, quality of life, and shortness of breath.

Breathing tests are routine clinical tests that measure lung function; spirometry (measures the ability to move air in and out of the lungs), lung volumes (measures the amount of air trapped in the lungs), diffusing capacity (measures how well lungs transfer oxygen to blood), forced oscillometry testing (measures respiratory resistance), and pulse oximetry (measures blood oxygen levels). In addition, subjects will be asked to inhale two puffs of albuterol, which is an inhaled medicine (bronchodilator) that may open up breathing passages, and to repeat some of the breathing tests.

The initial blood work will consist of two samples. The first sample will examine routine tests such as blood chemistries (such as sodium and potassium), hemoglobin, blood count, and blood sugar. The second sample will involve DNA testing. The DNA in your cells is what determines your genetic makeup. The DNA studies that will be done for this Research Registry will be restricted to studies of genetics associated with COPD. The total amount of blood drawn will be 5 tablespoons or less. A separate consent form, Consent 2, addresses this second blood draw in detail. In addition to the initial blood draw, the participant will be asked to contact the center when they are experiencing a COPD exacerbation (increased cough, change in sputum, shortness of breath, etc.). At that time, the participant will be asked to either come to the clinic or allow a study coordinator to go to them and obtain an additional sample of blood. The total amount of this sample will be less than 2 tablespoons. Biologic samples (serum plasma) will be under the control of the principal investigator of this research project. To protect confidentiality, all personal identifiers (i.e. name, social security number, birth date) will be removed (de-identified) and replaced with a specific code number. The information linking these code numbers to the corresponding subjects' identities will be kept in a separate, secure location. The investigators on this study will keep the samples indefinitely. Biological samples may (or will or will not) be given to investigators outside of UPMC or may be utilized in future studies.

Leg muscle strength will be measured using an isokinetic dynamometer (MERAC, Universal, Cedar Rapids, IA) in all subjects. Strength will be measured as peak angular force (Newton-m) generated at an angular velocity of 60º/sec during three maximal continuous repetitions. Subjects will be provided standardized instructions and perform practice maneuvers to ensure smooth torque curves.