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

National Center for Research Resources (NCRR)160 enrolled

Overview

OBJECTIVES: I. Establish cell lines from patients with alpha 1-antitrypsin deficiency in order to examine genetic traits that predispose to liver injury.

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

Conditions

Alpha 1-Antitrypsin Deficiency

Eligibility

Sex: ALLMin age: 0 Years

Medical Language ↔ Plain English

* Alpha 1-antitrypsin deficiency

Locations (1)

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.