Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency

Background: Significant challenges exist to investigating uncommon illnesse s because too few patients are seen at any single clinical center to permit appropriate research studies. Recognizing this impediment to clinical rese arch in alpha(1)-antitrypsin deficiency, the Alpha One Foundation, a patien t-organized research foundation, has collaborated with clinician-scientists to organize a voluntary registry of individuals with alpha(1)-antitrypsin deficiency. Purpose: To facilitate clinical research in alpha(1)-antitrypsin deficiency by organizing a registry of affected individuals willing to be approached to participate in clinical studies. Methods: Elements of the Alpha One Foundation Research Network Registry inc lude a Medical and Scientific Advisory Committee, composed of physician-inv estigators and patient advocates, designated clinical resource centers at m edical institutions with expertise in the management of individuals with al pha(1)-antitrypsin deficiency, and a data coordinating center with responsi bility for database management and analysis. Questionnaires requesting info rmation about demographic features, alpha(1)-antitrypsin phenotype, smoking history, and health-care utilization were distributed to prospective regis trants through the following channels: mailings from the Alpha One Foundati on; mailings from the clinical resource centers; and distribution by home-c are and pharmaceutical companies. Information from this questionnaire forme d the basis of the initial registry database. Results: Between May 1997 and June 1999, 7,789 forms were distributed, and forms were returned by 712 unique registrants. Registrants have the followi ng characteristics: mean (+/- SD) age, 49.3 +/- 13.2 years; women, 47.7%; w hile, 96.2%; PI*ZZ phenotype, 70.7%; ex-smokers, 73.3%; COPD patients, 87.2 % (emphysema patients, 54.2%; chronic bronchitis patients, 33%); and self-r eported liver disease, 6.4%. The mean number of physician visits reported b y registrants in the preceding 12 months was 7.8 +/- 9.4, 59% reported curr ently receiving IV augmentation therapy, and 35% reported using supplementa l oxygen at home. Examples of ongoing research studies using this unique da tabase include: (1) a case-control study to evaluate occupational risk fact ors for obstructive lung disease in individuals with alpha(1)-antitrypsin d eficiency and (2) a study to evaluate the health-care costs for affected in dividuals. Conclusions: A registry currently including 712 individuals with alpha(1)-a ntitrypsin deficiency has been organized through a collaboration between ph ysician-investigators and a patient-organized research foundation. Use of t he registry has already facilitated studies that were previously difficult because of the paucity of identifiable study subjects. The registry cohort promises to provide an important resource for future clinical and epidemiol ogic studies.