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NCT00159042 Clinical Trial

Genetic Factors Affecting the Severity of Beta Thalassemia

Beta Thalassemia Clinical Trial

Official title:
Identification of Novel Genetic Modifiers in Beta-thalassemia

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT00159042
Other study ID # 302803-HMO-CTIL
Secondary ID
Status Completed
Phase N/A
First received September 9, 2005
Last updated August 9, 2017
Start date July 2004
Est. completion date July 1, 2017

Study information
Verified date August 2017
Source Hadassah Medical Organization
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.

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.

Recruitment information / eligibility
Status Completed
Enrollment 50
Est. completion date July 1, 2017
Est. primary completion date July 1, 2017
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria:

- Identification of homozygous IVS1 nt 6 beta thalassemia mutation

Study Design

Related Conditions & MeSH terms

Locations
Country Name City State
Israel Hadassah Medical Organization Jerusalem

Sponsors (1)
Lead Sponsor Collaborator
Deborah Rund

Country where clinical trial is conducted

Israel, 

References & Publications (1)

Rund D, Oron-Karni V, Filon D, Goldfarb A, Rachmilewitz E, Oppenheim A. Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. Am J Hematol. 1997 Jan;54(1):16-22. — View Citation

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