Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency

This study has been terminated.
Children's Hospital of Pittsburgh
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: April 6, 2000
Last updated: June 23, 2005
Last verified: May 2002


I. Establish cell lines from patients with alpha 1-antitrypsin deficiency in order to examine genetic traits that predispose to liver injury.

Alpha 1-Antitrypsin Deficiency

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment: 160
Study Start Date: March 1999
Detailed Description:


Patients undergo blood draw and skin biopsy. Cells are isolated from patients' blood and skin, cell lines are established, and genetic traits are examined.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Alpha 1-antitrypsin deficiency
  Contacts and Locations
Please refer to this study by its identifier: NCT00005098

United States, Pennsylvania
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
Sponsors and Collaborators
Children's Hospital of Pittsburgh
Study Chair: David H. Perlmutter Children's Hospital of Pittsburgh
  More Information

No publications provided Identifier: NCT00005098     History of Changes
Other Study ID Numbers: 199/14810, WUSM-930603
Study First Received: April 6, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):
alpha 1-antitrypsin deficiency
genetic diseases and dysmorphic syndromes
rare disease

Additional relevant MeSH terms:
Alpha 1-Antitrypsin Deficiency
Liver Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Subcutaneous Emphysema
Pathologic Processes
Alpha 1-Antitrypsin
Trypsin Inhibitors
Serine Proteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Pharmacologic Actions processed this record on April 17, 2014