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Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE)


N/A
12 Years
N/A
Not Enrolling
Both
Pseudoxanthoma Elasticum, PXE

Thank you

Trial Information

Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE)


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 patients have two mutated alleles of the ABCC6 gene,
significant questions remain about the segregation of the disease, the presentation in
males versus females and the correlation of mutation to clinical phenotype.

Objectives:

- The objective is to examine the role of variants in the ABCC6 gene in PXE.

Eligibility:

- Samples from study participants were obtained through the PXE International BioBank.

- Families were selected that have samples from both parents and at least one sibling in
addition to the proband.

Design:

- Participants' DNA was sequenced to identify variants and genotyped for linked markers to
follow the segregation of mutant alleles and compare the results with the clinical outcomes.

Inclusion Criteria


- 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.

Type of Study:

Observational

Study Design:

N/A

Principal Investigator

Michael Dean, Ph.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)

Authority:

United States: Federal Government

Study ID:

999905106

NCT ID:

NCT00341419

Start Date:

February 2005

Completion Date:

May 2013

Related Keywords:

  • Pseudoxanthoma Elasticum
  • PXE
  • ABC Transporter
  • ABCC6
  • Slkin Laxity
  • Genetic Association
  • Angiod Streaks
  • Pseudoxanthoma Elasticum
  • PXE
  • Pseudoxanthoma Elasticum

Name

Location

National Cancer Institute (NCI), 9000 Rockville PikeBethesda, Maryland  20892