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
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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
National Center for Research Resources (NCRR)
Children's Hospital of Pittsburgh
Study Chair: David H. Perlmutter Children's Hospital of Pittsburgh
  More Information 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
Alpha 1-Antitrypsin
Digestive System Diseases
Genetic Diseases, Inborn
Liver Diseases
Lung Diseases
Pathologic Processes
Respiratory Tract Diseases
Subcutaneous Emphysema
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Protease Inhibitors
Serine Proteinase Inhibitors
Trypsin Inhibitors processed this record on May 25, 2016