- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00159042
Genetic Factors Affecting the Severity of Beta Thalassemia
August 9, 2017 updated by: Deborah Rund
Identification of Novel Genetic Modifiers in Beta-thalassemia
Patients with genetic diseases can have widely differing severities.
We are looking for genetic factors which influence the severity of beta thalassemia.
Study Overview
Status
Completed
Conditions
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
Enrollment (Actual)
50
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Jerusalem, Israel, IL91120
- Hadassah Medical Organization
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Sampling Method
Non-Probability Sample
Study Population
Patients analyzed for beta thalassemia in our laboratory in Hadassah.
Description
Inclusion Criteria:
- Identification of homozygous IVS1 nt 6 beta thalassemia mutation
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Principal Investigator: Ariella Oppenheim, PhD, Hadassah Medical Organization
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
July 1, 2004
Primary Completion (Actual)
July 1, 2017
Study Completion (Actual)
July 1, 2017
Study Registration Dates
First Submitted
September 9, 2005
First Submitted That Met QC Criteria
September 9, 2005
First Posted (Estimate)
September 12, 2005
Study Record Updates
Last Update Posted (Actual)
August 10, 2017
Last Update Submitted That Met QC Criteria
August 9, 2017
Last Verified
August 1, 2017
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 302803-HMO-CTIL
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Beta Thalassemia
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M.D. Anderson Cancer CenterWithdrawnSickle Cell Disease | Sickle Beta Thalassemia | Beta Thalassemia Major | Sickle Cell-SS Disease | Sickle Beta 0 Thalassemia | Sickle Beta Plus ThalassemiaUnited States
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CelgeneTerminatedBeta Thalassemia Intermedia | Beta Thalassemia MajorFrance, United Kingdom, Italy, Greece
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University of British ColumbiaCompletedSickle Cell Disease | Beta-Thalassemia | Sickle Cell Trait | Sickle Cell-Beta Thalassemia | Sickle Cell-SS DiseaseCanada, Nepal
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Editas Medicine, Inc.RecruitingHemoglobinopathies | Thalassemia Major | Thalassemia Intermedia | Transfusion Dependent Beta ThalassemiaUnited States, Canada
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Ionis Pharmaceuticals, Inc.TerminatedBeta Thalassemia IntermediaAustralia, Thailand, Greece, Lebanon, Turkey
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Agios Pharmaceuticals, Inc.Active, not recruitingTransfusion-dependent Alpha-Thalassemia | Transfusion-dependent Beta-ThalassemiaSpain, Taiwan, Thailand, United States, France, Canada, Malaysia, Germany, Netherlands, Bulgaria, United Kingdom, Turkey, Italy, Greece, United Arab Emirates, Brazil, Denmark, Lebanon, Saudi Arabia
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Agios Pharmaceuticals, Inc.Active, not recruitingNon-Transfusion-dependent Alpha-Thalassemia | Non-Transfusion-dependent Beta-ThalassemiaSpain, Taiwan, Thailand, United Kingdom, Malaysia, United States, Netherlands, Bulgaria, Turkey, Italy, Canada, Brazil, France, United Arab Emirates, Denmark, Greece, Lebanon, Saudi Arabia
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Children's Hospital of PhiladelphiaNot yet recruiting
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CorrectSequence Therapeutics Co., LtdFirst Affiliated Hospital of Guangxi Medical UniversityNot yet recruiting
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Bristol-Myers SquibbRecruiting