Genetic Analysis of Patients With Pseudoxanthoma Elasticum

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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Key information

Conditions

Pseudoxanthoma Elasticum Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders PXE Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Vascular Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

National Cancer Institute (NCI), 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Sponsors and collaborators

Lead sponsor

National Cancer Institute (NCI)

Nih

Registry information

Official study title

Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE)

Important dates

Study start: 2005
Study completion: 2013
First posted: Jun 21, 2006
Registry last updated: Dec 17, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed