Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency
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ClinicalTrials.gov Identifier: NCT00005098 |
Recruitment Status
:
Terminated
First Posted
: April 7, 2000
Last Update Posted
: June 24, 2005
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OBJECTIVES:
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 |
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Alpha 1-Antitrypsin Deficiency |
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.
Study Type : | Observational |
Enrollment : | 160 participants |
Primary Purpose: | Screening |
Study Start Date : | March 1999 |


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

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
United States, Pennsylvania | |
Children's Hospital of Pittsburgh | |
Pittsburgh, Pennsylvania, United States, 15213 |
Study Chair: | David H. Perlmutter | University of Pittsburgh |
ClinicalTrials.gov Identifier: | NCT00005098 History of Changes |
Other Study ID Numbers: |
199/14810 WUSM-930603 |
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 Emphysema |
Pathologic Processes Alpha 1-Antitrypsin Protein C Inhibitor Trypsin Inhibitors Serine Proteinase Inhibitors Protease Inhibitors Enzyme Inhibitors Molecular Mechanisms of Pharmacological Action |