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

This study has been terminated.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00005098
First Posted: April 7, 2000
Last Update Posted: June 24, 2005
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.
Collaborator:
University of Pittsburgh
Information provided by:
National Center for Research Resources (NCRR)
  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:


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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • Alpha 1-antitrypsin deficiency
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT00005098


Locations
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
Investigators
Study Chair: David H. Perlmutter University of Pittsburgh
  More Information

ClinicalTrials.gov Identifier: NCT00005098     History of Changes
Other Study ID Numbers: 199/14810
WUSM-930603
First Submitted: April 6, 2000
First Posted: April 7, 2000
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
Emphysema
Pathologic Processes
Alpha 1-Antitrypsin
Protein C Inhibitor
Trypsin Inhibitors
Serine Proteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action