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
  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

Genders Eligible for Study:   Both
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
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
Alpha 1-Antitrypsin
Liver Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Subcutaneous Emphysema
Emphysema
Pathologic Processes
Trypsin Inhibitors
Serine Proteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Pharmacologic Actions

ClinicalTrials.gov processed this record on September 16, 2014