Ignite Creation Date:
2024-05-05 @ 11:51 AM
Last Modification Date:
2024-10-26 @ 9:15 AM
Study NCT ID:
NCT00159042
Status:
COMPLETED
Last Update Posted:
2017-08-10
First Post:
2005-09-09
Brief Title:
Genetic Factors Affecting the Severity of Beta Thalassemia
Sponsor:
Deborah Rund
Organization:
Hadassah Medical Organization
Study Overview
Official Title:
Identification of Novel Genetic Modifiers in Beta-thalassemia
Status:
COMPLETED
Status Verified Date:
2017-08
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:
Patients with genetic diseases can have widely differing severities We are looking for genetic factors which influence the severity of beta thalassemia
Detailed Description:
The understanding of the phenotypic variability of genetically homogeneous disorders represents a major challenge In beta thalassemia the beta globin gene is affected by a variety of mutations The group of patients to be analyzed here is homozygous for a splice site mutation that is common in the Middle East In contrast to this genetic homogeneity the spectrum of the clinical phenotype ranges from mild anemia to most severe transfusion dependent anemia We will use a genetic linkage approach to identify modifying factors and by analyzing the efficiency of an mRNA surveillance mechanism that is referred to as nonsense-mediated decay and represents a candidate genetic modifier of beta thalassemia and other genetic disorders
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