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Genetic Factors Affecting the Severity of Beta Thalassemia

D

Deborah Rund

Status

Completed

Conditions

Beta Thalassemia

Study type

Observational

Funder types

Other

Identifiers

NCT00159042
302803-HMO-CTIL

Details and patient eligibility

About

Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.

Full 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.

Enrollment

50 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

  • Identification of homozygous IVS1 nt 6 beta thalassemia mutation

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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