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

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00005098

Enrollment

160

Registered

2000-04-07

Start date

1999-03-31

Completion date

Unknown

Last updated

2005-06-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Alpha 1-Antitrypsin Deficiency

Keywords

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

Brief summary

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

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.

Interventions

None listed

Eligibility

Sex/Gender

ALL

Age

0 Years to No maximum

Healthy volunteers

Inclusion criteria

* Alpha 1-antitrypsin deficiency

Countries

United States

Outcome results