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Genetic Factors Affecting the Severity of Beta Thalassemia

This study is currently recruiting participants.
Verified June 2011 by Hadassah Medical Organization
Sponsor:
Information provided by:
Hadassah Medical Organization
ClinicalTrials.gov Identifier:
NCT00159042
First received: September 9, 2005
Last updated: June 22, 2011
Last verified: June 2011
History of Changes
  Purpose

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


Condition
Beta Thalassemia

Study Type: Observational
Official Title: Identification of Novel Genetic Modifiers in Beta-thalassemia

Resource links provided by NLM:

MedlinePlus related topics: Thalassemia
U.S. FDA Resources

Further study details as provided by Hadassah Medical Organization:

Biospecimen Retention:   Samples With DNA

DNA isolated from peripheral blood


Estimated Enrollment: 200
Study Start Date: July 2004
Estimated Study Completion Date: April 2012
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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients analyzed for beta thalassemia in our laboratory in Hadassah.

Criteria

Inclusion Criteria:

  • Identification of homozygous IVS1 nt 6 beta thalassemia mutation
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00159042

Contacts
Contact: Deborah Rund, MD 00 972 2 6778712 rund@cc.huji.ac.il
Contact: Hadas Lemberg, PhD 00 972 2 6777572 lhadas@hadassah.org.il

Locations
Israel
Hadassah Medical Organization Recruiting
Jerusalem, Israel, IL91120
Contact: Arik Tzukert, DMD     00 972 2 6776095     arik@hadassah.org.il    
Contact: Hadas Lemberg, PhD     00 972 2 6777572     lhadas@hadassah.org.il    
Principal Investigator: Ariella Oppenheim, PhD            
Sub-Investigator: Deborah Rund, MD            
Sub-Investigator: Dvora Filon, PhD            
Sponsors and Collaborators
Hadassah Medical Organization
Investigators
Principal Investigator: Ariella Oppenheim, PhD Hadassah Medical Organization
  More Information

Publications:

Responsible Party: Deborah Rund, Hadassah Medical Organization
ClinicalTrials.gov Identifier: NCT00159042     History of Changes
Other Study ID Numbers: 302803-HMO-CTIL
Study First Received: September 9, 2005
Last Updated: June 22, 2011
Health Authority: Israel: Israeli Health Ministry Pharmaceutical Administration

Additional relevant MeSH terms:
Beta-Thalassemia
Thalassemia
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
 Anemia
Hematologic Diseases
Hemoglobinopathies
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 23, 2013