Genetic Factors Affecting the Severity of Beta Thalassemia
Identification of Novel Genetic Modifiers in Beta-thalassemia
1 other identifier
observational
50
1 country
1
Brief Summary
Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jul 2004
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 1, 2004
CompletedFirst Submitted
Initial submission to the registry
September 9, 2005
CompletedFirst Posted
Study publicly available on registry
September 12, 2005
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 1, 2017
CompletedStudy Completion
Last participant's last visit for all outcomes
July 1, 2017
CompletedAugust 10, 2017
August 1, 2017
13 years
September 9, 2005
August 9, 2017
Conditions
Eligibility Criteria
Patients analyzed for beta thalassemia in our laboratory in Hadassah.
You may qualify if:
- Identification of homozygous IVS1 nt 6 beta thalassemia mutation
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Deborah Rundlead
Study Sites (1)
Hadassah Medical Organization
Jerusalem, IL91120, Israel
Related Publications (1)
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.
PMID: 8980256BACKGROUND
Biospecimen
DNA isolated from peripheral blood
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Ariella Oppenheim, PhD
Hadassah Medical Organization
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR INVESTIGATOR
- PI Title
- Senior Hematologist
Study Record Dates
First Submitted
September 9, 2005
First Posted
September 12, 2005
Study Start
July 1, 2004
Primary Completion
July 1, 2017
Study Completion
July 1, 2017
Last Updated
August 10, 2017
Record last verified: 2017-08