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Genetic Analysis of Patients With Pseudoxanthoma Elasticum

NCT00341419 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 188

Last updated 2019-12-17

No results posted yet for this study

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 affects the connective tissue in some parts of the body. Calcium and other minerals are deposited in the connective tissue, causing changes in the skin, eyes, cardiovascular system and gastrointestinal system. Some effects of PXE can cause serious medical problems, while others have less impact. Symptoms often appear earlier and are more severe in females than in males, but there is no way to predict how the disorder will progress in any given individual.

Candidates for this study are recruited through PXE International, an organization that provides patient support and supports research on the disease. The organization collects biological samples and medical information on patients and family members to help further research on the disease. Families that have samples from the patient, both parents, and at least one sibling may be eligible for this study. Grandparents and extended family members may be included in certain instances.

Participants provide a blood sample, a sample of cells scraped from the inside of the cheek (buccal cells) and a medical history. The samples are analyzed for gene variants and the findings are correlated with disease signs and symptoms.

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Conditions

  • Pseudoxanthoma Elasticum
  • PXE

Sponsors & Collaborators

  • National Cancer Institute (NCI)

    lead NIH

Principal Investigators

  • Michael Dean, Ph.D. · National Cancer Institute (NCI)

Eligibility

Min Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2005-02-16
Completion
2013-05-14

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00341419 on ClinicalTrials.gov