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Genetic Factors Affecting the Severity of Beta Thalassemia

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ClinicalTrials.gov Identifier: NCT00159042
Recruitment Status : Completed
First Posted : September 12, 2005
Last Update Posted : August 10, 2017
Sponsor:
Information provided by (Responsible Party):
Deborah Rund, Hadassah Medical Organization

Tracking Information
First Submitted Date September 9, 2005
First Posted Date September 12, 2005
Last Update Posted Date August 10, 2017
Actual Study Start Date July 2004
Actual Primary Completion Date July 1, 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Factors Affecting the Severity of Beta Thalassemia
Official Title Identification of Novel Genetic Modifiers in Beta-thalassemia
Brief Summary Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.
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 Type Observational
Study Design Observational Model: Other
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
DNA isolated from peripheral blood
Sampling Method Non-Probability Sample
Study Population Patients analyzed for beta thalassemia in our laboratory in Hadassah.
Condition Beta Thalassemia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: August¬†9,¬†2017)
50
Original Enrollment Not Provided
Actual Study Completion Date July 1, 2017
Actual Primary Completion Date July 1, 2017   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Identification of homozygous IVS1 nt 6 beta thalassemia mutation
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Israel
Removed Location Countries  
 
Administrative Information
NCT Number NCT00159042
Other Study ID Numbers 302803-HMO-CTIL
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Deborah Rund, Hadassah Medical Organization
Study Sponsor Deborah Rund
Collaborators Not Provided
Investigators
Principal Investigator: Ariella Oppenheim, PhD Hadassah Medical Organization
PRS Account Hadassah Medical Organization
Verification Date August 2017