Ignite Creation Date:
2024-05-05 @ 4:55 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00341419
Status:
COMPLETED
Last Update Posted:
2019-12-17
First Post:
2006-06-19
Brief Title:
Genetic Analysis of Patients With Pseudoxanthoma Elasticum
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Patients With Pseudoxanthoma Elasticum PXE
Status:
COMPLETED
Status Verified Date:
2013-05-14
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-C-N106 | None | None | None |