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Genetic Analysis of Patients With Pseudoxanthoma Elasticum

Primary Purpose

Pseudoxanthoma Elasticum, PXE

Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
National Cancer Institute (NCI)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Pseudoxanthoma Elasticum focused on measuring ABC Transporter, ABCC6, Slkin Laxity, Genetic Association, Angiod Streaks, Pseudoxanthoma Elasticum, PXE

Eligibility Criteria

12 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

  • National Cancer Institute (NCI), 9000 Rockville Pike

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
June 19, 2006
Last Updated
December 14, 2019
Sponsor
National Cancer Institute (NCI)
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1. Study Identification

Unique Protocol Identification Number
NCT00341419
Brief Title
Genetic Analysis of Patients With Pseudoxanthoma Elasticum
Official Title
Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE)
Study Type
Observational

2. Study Status

Record Verification Date
May 14, 2013
Overall Recruitment Status
Completed
Study Start Date
February 16, 2005 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
May 14, 2013 (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
National Cancer Institute (NCI)

4. Oversight

5. Study Description

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 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. ...
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 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pseudoxanthoma Elasticum, PXE
Keywords
ABC Transporter, ABCC6, Slkin Laxity, Genetic Association, Angiod Streaks, Pseudoxanthoma Elasticum, PXE

7. Study Design

Enrollment
188 (Actual)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
12 Years
Accepts Healthy Volunteers
No
Eligibility 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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Michael Dean, Ph.D.
Organizational Affiliation
National Cancer Institute (NCI)
Official's Role
Principal Investigator
Facility Information:
Facility Name
National Cancer Institute (NCI), 9000 Rockville Pike
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States

12. IPD Sharing Statement

Citations:
PubMed Identifier
10835
Citation
Hagedorn C. Influences of soil acidity on Streptomyces populations inhabiting forest soils. Appl Environ Microbiol. 1976 Sep;32(3):368-75. doi: 10.1128/aem.32.3.368-375.1976.
Results Reference
background
PubMed Identifier
11435397
Citation
Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001 Jul;11(7):1156-66. doi: 10.1101/gr.184901.
Results Reference
background
PubMed Identifier
10431237
Citation
Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, Drobnik W, Barlage S, Buchler C, Porsch-Ozcurumez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet. 1999 Aug;22(4):347-51. doi: 10.1038/11914.
Results Reference
background

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Genetic Analysis of Patients With Pseudoxanthoma Elasticum

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