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Genetic Factors Affecting the Severity of Beta Thalassemia

NCT ID: NCT00159042

Last Updated: 2017-08-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-07-31

Study Completion Date

2017-07-01

Brief Summary

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

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Detailed Description

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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.

Conditions

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Beta Thalassemia

Study Design

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Observational Model Type

OTHER

Study Time Perspective

OTHER

Eligibility Criteria

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Inclusion Criteria

* Identification of homozygous IVS1 nt 6 beta thalassemia mutation
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Deborah Rund

OTHER

Sponsor Role lead

Responsible Party

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Deborah Rund

Senior Hematologist

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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Ariella Oppenheim, PhD

Role: PRINCIPAL_INVESTIGATOR

Hadassah Medical Organization

Locations

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Hadassah Medical Organization

Jerusalem, , Israel

Site Status

Countries

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Israel

References

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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. doi: 10.1002/(sici)1096-8652(199701)54:13.0.co;2-7.

Reference Type BACKGROUND
PMID: 8980256 (View on PubMed)

Other Identifiers

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302803-HMO-CTIL

Identifier Type: -

Identifier Source: org_study_id

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