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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

160 participants

Study Classification

OBSERVATIONAL

Study Start Date

1999-03-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Alpha 1-Antitrypsin Deficiency

Keywords

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alpha 1-antitrypsin deficiency genetic diseases and dysmorphic syndromes rare disease

Eligibility Criteria

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Inclusion Criteria

* Alpha 1-antitrypsin deficiency

Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Principal Investigators

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David H. Perlmutter

Role: STUDY_CHAIR

University of Pittsburgh

Locations

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Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status

Countries

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United States

Other Identifiers

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WUSM-930603

Identifier Type: -

Identifier Source: secondary_id

199/14810