Status:
COMPLETED
A Novel Mutation of the Spectrin Gene
Lead Sponsor:
University of Utah
Collaborating Sponsors:
University of Witwatersrand, South Africa
Conditions:
Hereditary Elliptocytosis (HE)
Hereditary Pyropoikilocytosis (HPP)
Eligibility:
All Genders
7+ years
Brief Summary
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
Detailed Description
Mutations of spectrin (Sp) involving the Sp heterodimer self-association site (the I domain of Sp) represent the most common group of membrane skeletal defects in hereditary elliptocytosis (HE) and a ...
Eligibility Criteria
Inclusion
- \> 7 years of age
- Consenting family members
Exclusion
- Anyone not meeting the criteria above
Key Trial Info
Start Date :
February 1 2008
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 1 2008
Estimated Enrollment :
12 Patients enrolled
Trial Details
Trial ID
NCT00723567
Start Date
February 1 2008
End Date
December 1 2008
Last Update
February 19 2009
Active Locations (1)
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1
University of Utah
Salt Lake City, Utah, United States, 84132