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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00005098
Recruitment Status : Terminated
First Posted : April 7, 2000
Last Update Posted : June 24, 2005
University of Pittsburgh
Information provided by:
National Center for Research Resources (NCRR)

Brief Summary:


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

Condition or disease
Alpha 1-Antitrypsin Deficiency

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.

Study Type : Observational
Enrollment : 160 participants
Primary Purpose: Screening
Study Start Date : March 1999

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Alpha 1-antitrypsin deficiency

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00005098

United States, Pennsylvania
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of Pittsburgh
Study Chair: David H. Perlmutter University of Pittsburgh Identifier: NCT00005098     History of Changes
Other Study ID Numbers: 199/14810
First Posted: April 7, 2000    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: May 2002

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
Protein C Inhibitor
Trypsin Inhibitors
Serine Proteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action