Physical activity is extremely important for people with alpha-1 antitrypsin deficiency-associated lung disease. It is also important for these individuals to maintain a healthy body weight. The Step Forward Study examined the effect of intensive exercise and nutrition-related activities among individuals who were participating in AlphaNet’s Alpha-1 Disease Management and Prevention Program. The materials for these activities were mailed to the study participants and delivered via teleconferences. Participants were randomly assigned to either the intervention group or the standard care group. Both groups continued their standard AlphaNet disease management program. The study compared the exercise activity and weight improvements over time between the intervention group and the standard care group.

Five hundred people joined this 5-year study and were instructed to record their exercise minutes daily and their weight weekly. Over time, participants in both groups logged a high number of exercise minutes, but those in the intervention group exercised significantly more and moved towards their ideal body weight.

In summary, adding intensive exercise, educational and nutrition-related activities to the standard Alphanet disease management program increased exercise time and improved body weight in people with alpha-1 antitrypsin deficiency-related lung disease.

Many medications exist for patients with chronic obstructive pulmonary disease (COPD), which are given through either single or multiple inhalers. To support prescribers’ treatment decisions, it is helpful to understand what patients like and dislike about their medications. This study included 60-minute telephone interviews and face-to-face focus groups in the United Kingdom, United States and Germany with patients with moderate-to-severe COPD. Participants were asked which treatment factors were important to them. Each interview and focus group included discussions around what participants thought of their current treatment, their treatment goals and how they felt about changing treatments. Benefits preferred by the participants included that the medication worked, it was easy to use the inhaler and that fewer doses per day were needed. Treatment factors that participants disliked were side effects, medication taste and difficult to use inhalers. Participants said they would be willing to switch treatments if the new treatment worked better, could be taken less often or if their doctor advised them to. These results show that patients may consider many elements when choosing treatments and highlight the importance of both treatment effectiveness and inhaler choice. These findings were used to develop another study to further understand aspects of COPD medications that patients consider important.

Alpha-1 antitrypsin deficiency (AATD) is a genetic disease associated with emphysema. AATD is caused by a variety of mutations in one gene called SERPINA1. The disease mostly occurs in individuals who inherited 2 defective copies (alleles) of the gene-- 1 defective copy from each parent. However, patients carrying 2 mutations in this genedoes not always, necessarily, equal to 2 deficient alleles (copies) as the mutations can be on the same allelic background—said another way: both mutations were inherited from the same parent. Clarifying whether 2 or more mutations observed in one individual are on the same or distinct alleles is an important management decision point. As part of our clinical screening for AATD, we encountered patients with a rare mutation who were also carriers of other more common mutations. We developed a method to distinguish whether these mutations were on the same copy (leaving a "normal" copy without mutations), or on 2 different, defective copies. We make the point that for rare cases, this method is important to understanding the clinical significance of genetic mutations found in SERPINA1 and to provide a more accurate diagnosis for AATD.

Chronic obstructive pulmonary disease (COPD) usually results in shortness of breath, coughing and phlegm production. People may blame their shortness of breath, cough and repeated “bad colds” on getting older, having a “normal” smoker’s cough, being out of shape, or being overweight. But those symptoms may be COPD and that COPD is often diagnosed late when it has become severe.

This report outlines the study of a simple test called CAPTURE designed to find COPD earlier. The CAPTURE test includes 5 questions about lung health and a peak flow breathing test. By finding COPD when it is less severe, people can start treatments like smoking cessation, immunizations, regular exercise and COPD medicines earlier to help reduce breathing problems and prevent flare-ups (exacerbations).

The CAPTURE study will enroll 5,000 patients from primary care offices who are 40 years and older and who have not been diagnosed with COPD. CAPTURE will help find people who need more testing to see if they have COPD. The study results will help decide if CAPTURE can find people with undiagnosed COPD and if being diagnosed earlier can help them have fewer lung problems and get better respiratory care.

What occurred during the study?

IMPACT was a large 1-year study conducted across many countries. The study showed that 1 inhaler containing an inhaled corticosteroid (fluticasone furoate) plus 2 inhaled long-acting medicines that open the airways (umeclidinium and vilanterol), administered once a day, reduces flare-ups, and improves lung function and perceived wellbeing compared with the dual combinations of fluticasone furoate/vilanterol and umeclidinium/vilanterol in patients with chronic obstructive pulmonary disease. This analysis compared study results in Western Europe (3164 patients) and North America (2639 patients).

What was learned at the end of the study?

In both regions, treatment with fluticasone furoate/umeclidinium/vilanterol reduced disease flare-ups and improved lung function versus both dual combinations. Perceived wellbeing was improved for patients from Western Europe but not patients from North America. Safety results were similar in both regions; however, in North America more patients developed pneumonia when receiving combinations containing fluticasone furoate compared with umeclidinium/vilanterol, but this was not seen in Western Europe.

Why was the research needed?

This research investigated if there were differences in response to treatment, dependent on geographic location. The results support treatment with 1 inhaler containing fluticasone furoate/umeclidinium/vilanterol for patients with chronic obstructive pulmonary disease in Western Europe and North America.

Chronic obstructive pulmonary disease is a disease that affects the airways and can occur due to cigarette smoke, genetic causes or exposure to pollution. There are cells in the airways called macrophages that get exposed to any smoke or pollution. We can sometimes see deposits of black carbon in the macrophages because of these exposures. It is unknown if the deposits in those cells (the macrophages) are linked with worse symptoms or a difference in the how the macrophage cells function.

We obtained macrophages from the airways of 30 individuals with chronic obstructive pulmonary disease who used to smoke but quit. We looked at how much black carbon there was and how that affected protein production. We found that a higher level of black carbon in macrophages is associated with more flare-ups of disease (called exacerbations) and less expression of a protein called CD80. The CD80 protein, located on the surface of many immune cells, plays an important role in telling the body to create an immune response or defense against a possible developing illness. This means the black carbon that builds up in these cells might lead to less expression of the CD80 protein and lead to more disease flare-ups or exacerbations. We identified an association but there are other studies and lab experiments that could be done in the future to see if the black carbon actually causes the CD80 to be reduced causing the disease flare-ups.

Although both national and regional COPD registries and patient cohorts already exist in the United States, none are based in primary care. The Advancing the Patient Experience in COPD registry is the first primary care COPD registry in the United States. Its data, or information, will be standardized and stored in a database, and used to understand:

• the natural progression of COPD in individuals over time,
• how patients are managed in real-life and
• clinical, safety and cost-effectiveness of current COPD treatments in primary care across the United States.

We conducted a type of study known as a “modified Delphi study” to reach expert agreement on a standardized list of demographic (age, sex, race, etc) disease monitoring (symptoms, diagnosis, etc), and treatment (inhaler, medicines, etc) variables to establish the Advancing the Patient Experience in COPD registry.

Of the originally identified variables, 115 were selected from existing electronic health records, 34 variables from patient questionnaires, and 5 variables will be collected during office visits. These variables include information on COPD diagnosis, exacerbations, symptoms, lung function, quality-of-life, comorbidities, smoking history, treatment, inhaler management (including inhaler technique), and education/self-management. They were selected for their clinical relevance and usefulness to family doctors and patients, and for feasibility, familiarity, and practicality of collection.

Alpha-1 antitrypsin deficiency (AATD) is an important risk factor for the development of chronic obstructive pulmonary disease (COPD), which causes breathlessness, cough and flare-ups of chest symptoms known as exacerbations.

AATD-related COPD has some differences from non-AATD (usual) COPD, such as occurring at an earlier age. This article reviews the literature surrounding causes, clinical features and management of exacerbations of AATD-related COPD, and how these compare to the same in usual COPD.

In summary, AATD exacerbations may be longer and more frequent than in usual COPD, which likely relates to differences in inflammation. Similar to usual COPD these exacerbations negatively impact the disease including a patient’s quality of life. Future research on exacerbations in AATD is required to aid patient management.