Genetic Factors Affecting the Severity of Beta Thalassemia

Completed

• Conditions: Beta Thalassemia

• Registration Number: NCT00159042
• Lead Sponsor: Deborah Rund

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 Timeline

• Study Start: 2004-07
• Study First Submitted: 2005-09-09
• Study First Submitted QC: 2005-09-09
• Study First Posted: 2005-09-12
• Primary Completion: 2017-07-01
• Study Completion: 2017-07-01
• Status Verified: 2017-08
• Last Update Submitted: 2017-08-09
• Last Update Posted: 2017-08-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• Identification of homozygous IVS1 nt 6 beta thalassemia mutation

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

Hadassah Medical Organization; 🇮🇱 Jerusalem, Israel