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Sponsored by: |
Hadassah Medical Organization |
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Information provided by: | Hadassah Medical Organization |
ClinicalTrials.gov Identifier: | NCT00159042 |
Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.
Condition |
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Beta Thalassemia |
Study Type: | Observational |
Official Title: | Identification of Novel Genetic Modifiers in Beta-Thalassemia |
DNA isolated from peripheral blood
Estimated Enrollment: | 200 |
Study Start Date: | July 2004 |
Estimated Study Completion Date: | April 2009 |
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Patients analyzed for beta thalassemia in our laboratory in Hadassah.
Inclusion Criteria:
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 |
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 |
Principal Investigator: | Ariella Oppenheim, PhD | Hadassah Medical Organization |
Responsible Party: | Hadassah Medical Organization ( Deborah Rund ) |
Study ID Numbers: | 302803-HMO-CTIL |
Study First Received: | September 9, 2005 |
Last Updated: | December 17, 2007 |
ClinicalTrials.gov Identifier: | NCT00159042 |
Health Authority: | Israel: Israeli Health Ministry Pharmaceutical Administration |
Anemia, Hemolytic, Congenital Thalassemia minor Genetic Diseases, Inborn Hematologic Diseases Hemoglobinopathies Beta-Thalassemia |
Beta-thalassemia Anemia Anemia, Hemolytic Hemoglobinopathy Thalassemia |