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

Descriptive Information
Brief Title ^†	Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency
Official Title ^†
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.
Study Phase	N/A
Study Type ^†	Observational
Study Design ^†	Primary Purpose: Screening
Primary Outcome Measure ^†
Secondary Outcome Measure ^†
Condition ^†	Alpha 1-Antitrypsin Deficiency
Intervention ^†
Study Arms / Comparison Groups
Publications *
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status ^†
Estimated Enrollment ^†	160
Start Date ^†	March 1999
Completion Date
Primary Completion Date
Eligibility Criteria ^†	Alpha 1-antitrypsin deficiency
Gender	Both
Ages	N/A - N/A
Accepts Healthy Volunteers	No
Contacts ^††	, , , ,
Location Countries ^†	United States,
Administrative Information
NCT ID ^†	NCT00005098
Organization ID	199/14810
Secondary IDs ^††	WUSM-930603
Responsible Party	,
Study Sponsor ^†	National Center for Research Resources (NCRR)
Collaborators ^††	Children's Hospital of Pittsburgh
Investigators ^†	Study Chair: David H. Perlmutter, Children's Hospital of Pittsburgh
Information Provided By	National Center for Research Resources (NCRR)
Verification Date	May 2002
First Received Date ^†	April 6, 2000
Last Updated Date	June 23, 2005

^† Required WHO trial registration data element.
^†† WHO trial registration data element that is required only if it exists.