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

This study has been terminated.

First Received on April 6, 2000. Last Updated on June 23, 2005 History of Changes

Sponsor:	National Center for Research Resources (NCRR)
Collaborator:	Children's Hospital of Pittsburgh
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00005098

Purpose

OBJECTIVES:

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

Condition
Alpha 1-Antitrypsin Deficiency

Study Type:	Observational
Study Design:	Primary Purpose: Screening

Resource links provided by NLM:

Genetics Home Reference related topics: alpha-1 antitrypsin deficiency

MedlinePlus related topics: Alpha-1 Antitrypsin Deficiency

U.S. FDA Resources

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

Estimated Enrollment:	160
Study Start Date:	March 1999

Detailed Description:

PROTOCOL OUTLINE:

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

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Alpha 1-antitrypsin deficiency

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00005098

Locations

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

Investigators

Study Chair:

David H. Perlmutter

Children's Hospital of Pittsburgh

More Information

No publications provided

ClinicalTrials.gov 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
Emphysema

Pathologic Processes
Alpha 1-Antitrypsin
Trypsin Inhibitors
Serine Proteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Pharmacologic Actions

ClinicalTrials.gov processed this record on February 12, 2012