Beta ThalassemiaNCT00159042
Genetic Factors Affecting the Severity of Beta Thalassemia
An observational study of Beta Thalassemia, run by Deborah Rund at 1 site in Israel.
Trial summary
Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Beta Thalassemia
- How many people
- 50 participants
- Where
- 1 siteIsrael
- Study dates
- Jul 2004to 1 Jul 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients analyzed for beta thalassemia in our laboratory in Hadassah.
Who may be able to join
- Identification of homozygous IVS1 nt 6 beta thalassemia mutation
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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.
- Conditions
- Beta Thalassemia
- Medical subject headings
- beta-Thalassemia
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2005 (estimated)
- Study startJul 2004
- Primary completion1 Jul 2017
- Study completion1 Jul 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Beta ThalassemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- Deborah Rund
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Deborah Rund, Hadassah Medical Organization
- Investigators
- Ariella Oppenheim, PhD, Principal investigator, Hadassah Medical Organization
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00159042
- Sponsor's protocol ID
- 302803-HMO-CTIL
- Status last verified
- Aug 2017
- First submitted
- 9 Sep 2005
- Last updated
- 10 Aug 2017
- Results posted
- No
- Data monitoring committee
- No
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. doi: 10.1002/(sici)1096-8652(199701)54:13.0.co;2-7.
PubMed 8980256
Study at a glance
From the registry record, last updated by the sponsor on 10 Aug 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Novel Genetic Modifiers in Beta-thalassemia
- ClinicalTrials.gov ID
- NCT00159042
- Acronym / sponsor ID
- 302803-HMO-CTIL
- Conditions
- Beta Thalassemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants (actual)
- Lead sponsor
- Deborah RundUniversity, hospital or other
- Study start
- Jul 2004 (actual)
- Primary completion
- 1 Jul 2017 (actual)
- Study completion
- 1 Jul 2017 (actual)
- First posted
- 12 Sep 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients analyzed for beta thalassemia in our laboratory in Hadassah.
Key inclusion criteria (1 listed)
- Identification of homozygous IVS1 nt 6 beta thalassemia mutation
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Aug 2017.
- Background: PubMed 8980256Rund 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ariella Oppenheim, PhD principal investigator
Hadassah Medical Organization
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Beta Thalassemia, run by Deborah Rund at 1 site in Israel.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Aug 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00159042, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Aug 2017.