Status:
COMPLETED
Genetic Analysis of Patients With Pseudoxanthoma Elasticum
Lead Sponsor:
National Cancer Institute (NCI)
Conditions:
Pseudoxanthoma Elasticum
PXE
Eligibility:
All Genders
12+ years
Brief Summary
This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that af...
Detailed Description
Background: * Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by mutations in the ATP-binding cassette transporter, ABCC6. * PXE while it is known that patient...
Eligibility Criteria
Inclusion
- INCLUSION/EXCLUSION CRITERIA:
- A representative set of collected families will be studied. No subjects within these families will be excluded.
- Families will be selected that have samples from both parents and at least one sibling in addition to the proband.
- The siblings will include both affected and unaffected.
- If grandparents are available they will also be typed to help in phase determination.
- Extended relatives will only be selected in multiple generation families.
Exclusion
Key Trial Info
Start Date :
February 16 2005
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 14 2013
Estimated Enrollment :
188 Patients enrolled
Trial Details
Trial ID
NCT00341419
Start Date
February 16 2005
End Date
May 14 2013
Last Update
December 17 2019
Active Locations (1)
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1
National Cancer Institute (NCI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892