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

This study has been terminated.

Sponsor:

Collaborator:

Children's Hospital of Pittsburgh

Information provided by:

National Center for Research Resources (NCRR)

ClinicalTrials.gov Identifier:

NCT00005098

First received: April 6, 2000

Last updated: June 23, 2005

Last verified: May 2002

History of Changes

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

Drug Information available for: alpha 1-Antitrypsin

Genetic and Rare Diseases Information Center resources: 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


Ages Eligible for Study:	Child, Adult, Senior
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

Alpha 1-antitrypsin deficiency

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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


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

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

ClinicalTrials.gov processed this record on August 18, 2017

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