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

Primary Purpose

Alpha 1-Antitrypsin Deficiency

Status
Terminated
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
National Center for Research Resources (NCRR)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Alpha 1-Antitrypsin Deficiency focused on measuring alpha 1-antitrypsin deficiency, genetic diseases and dysmorphic syndromes, rare disease

Eligibility Criteria

0 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Alpha 1-antitrypsin deficiency

Sites / Locations

  • Children's Hospital of Pittsburgh

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
April 6, 2000
Last Updated
June 23, 2005
Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of Pittsburgh
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1. Study Identification

Unique Protocol Identification Number
NCT00005098
Brief Title
Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency
Study Type
Observational

2. Study Status

Record Verification Date
May 2002
Overall Recruitment Status
Terminated
Study Start Date
March 1999 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of Pittsburgh

4. Oversight

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Alpha 1-Antitrypsin Deficiency
Keywords
alpha 1-antitrypsin deficiency, genetic diseases and dysmorphic syndromes, rare disease

7. Study Design

Enrollment
160 (false)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
0 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Alpha 1-antitrypsin deficiency
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
David H. Perlmutter
Organizational Affiliation
University of Pittsburgh
Official's Role
Study Chair
Facility Information:
Facility Name
Children's Hospital of Pittsburgh
City
Pittsburgh
State/Province
Pennsylvania
ZIP/Postal Code
15213
Country
United States

12. IPD Sharing Statement

Learn more about this trial

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

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