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Genetic Factors Affecting the Severity of Beta Thalassemia

Sponsor
Deborah Rund (Other)
Overall Status
Completed
CT.gov ID
NCT00159042
Collaborator
(none)
50
Enrollment
1
Location
156
Actual Duration (Months)
0.3
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Actual Enrollment :
    50 participants
    Observational Model:
    Other
    Time Perspective:
    Other
    Official Title:
    Identification of Novel Genetic Modifiers in Beta-thalassemia
    Actual Study Start Date :
    Jul 1, 2004
    Actual Primary Completion Date :
    Jul 1, 2017
    Actual Study Completion Date :
    Jul 1, 2017

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      N/A and Older
      Sexes Eligible for Study:
      All
      Accepts Healthy Volunteers:
      No
      Inclusion Criteria:
      • Identification of homozygous IVS1 nt 6 beta thalassemia mutation

      Contacts and Locations

      Locations

      Site City State Country Postal Code
      1 Hadassah Medical Organization Jerusalem Israel IL91120

      Sponsors and Collaborators

      • Deborah Rund

      Investigators

      • Principal Investigator: Ariella Oppenheim, PhD, Hadassah Medical Organization

      Study Documents (Full-Text)

      None provided.

      More Information

      Publications

      Responsible Party:
      Deborah Rund, Senior Hematologist, Hadassah Medical Organization
      ClinicalTrials.gov Identifier:
      NCT00159042
      Other Study ID Numbers:
      • 302803-HMO-CTIL
      First Posted:
      Sep 12, 2005
      Last Update Posted:
      Aug 10, 2017
      Last Verified:
      Aug 1, 2017
      Additional relevant MeSH terms:
      Thalassemia
      beta-Thalassemia

      Study Results

      No Results Posted as of Aug 10, 2017