Formation and current results of a patient-organized registry for α1-antitrypsin deficiency

J. K. Stoller, M. Brantly, L. E. Fleming, J. A. Bean, J. Walsh

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Background: Significant challenges exist to investigating uncommon illnesses because too few patients are seen at any single clinical center to permit appropriate research studies. Recognizing this impediment to clinical research in α1-antitrypsin deficiency, the Alpha One Foundation, a patient-organized research foundation, has collaborated with clinician-scientists to organize a voluntary registry of individuals with α1-antitrypsin deficiency. Purpose: To facilitate clinical research in α1-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 include a Medical and Scientific Advisory Committee, composed of physician-investigators and patient advocates, designated clinical resource centers at medical institutions with expertise in the management of individuals with α1-antitrypsin deficiency, and a data coordinating center with responsibility for database management and analysis. Questionnaires requesting information about demographic features, α1-antitrypsin phenotype, smoking history, and health-care utilization were distributed to prospective registrants through the following channels: mailings from the Alpha One Foundation; mailings from the clinical resource centers; and distribution by home-care and pharmaceutical companies. Information from this questionnaire formed 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 following characteristics: mean (± SD) age, 49.3 ± 13.2 years; women, 47.7%; white, 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-reported liver disease, 6.4%. The mean number of physician, visits reported by registrants in the preceding 12 months was 7.8 ± 9.4, 59% reported currently receiving IV augmentation therapy, and 35% reported using supplemental oxygen at home. Examples of ongoing research studies using this unique database include: (1) a case-control study to evaluate occupational risk factors for obstructive lung disease in individuals with α1-antitrypsin deficiency and (2) a study to evaluate the health-care costs for affected individuals. Conclusions: A registry currently including 712 individuals with α1-antitrypsin deficiency has been organized through a collaboration between physician-investigators and a patient-organized research foundation. Use of the 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 epidemiologic studies.

Original languageEnglish
Pages (from-to)843-848
Number of pages6
JournalChest
Volume118
Issue number3
StatePublished - Jan 1 2000
Externally publishedYes

Fingerprint

Registries
Research
Databases
Physicians
Patient Acceptance of Health Care
Research Personnel
alpha 1-Antitrypsin Deficiency
Phenotype
Obstructive Lung Diseases
Chronic Bronchitis
Emphysema
Advisory Committees
Home Care Services
Health Care Costs
Chronic Obstructive Pulmonary Disease
Case-Control Studies
Liver Diseases
Epidemiologic Studies
Smoking
History

Keywords

  • α-antitrypsin deficiency
  • Emphysema
  • Patient-organized
  • Registry

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

Stoller, J. K., Brantly, M., Fleming, L. E., Bean, J. A., & Walsh, J. (2000). Formation and current results of a patient-organized registry for α1-antitrypsin deficiency. Chest, 118(3), 843-848.

Formation and current results of a patient-organized registry for α1-antitrypsin deficiency. / Stoller, J. K.; Brantly, M.; Fleming, L. E.; Bean, J. A.; Walsh, J.

In: Chest, Vol. 118, No. 3, 01.01.2000, p. 843-848.

Research output: Contribution to journalArticle

Stoller, JK, Brantly, M, Fleming, LE, Bean, JA & Walsh, J 2000, 'Formation and current results of a patient-organized registry for α1-antitrypsin deficiency', Chest, vol. 118, no. 3, pp. 843-848.
Stoller JK, Brantly M, Fleming LE, Bean JA, Walsh J. Formation and current results of a patient-organized registry for α1-antitrypsin deficiency. Chest. 2000 Jan 1;118(3):843-848.
Stoller, J. K. ; Brantly, M. ; Fleming, L. E. ; Bean, J. A. ; Walsh, J. / Formation and current results of a patient-organized registry for α1-antitrypsin deficiency. In: Chest. 2000 ; Vol. 118, No. 3. pp. 843-848.
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