Beta-Thalassemia

Pathophysiology

Beta-thalassemia is an inherited red blood cell disorder caused by mutations in and around the β-globin gene and characterized by reduced or absent β-globin chain synthesis, decreased hemoglobin in the blood, and reduced functional red blood cell production.1-4 Loss of β-globin results in a toxic accumulation of the α-globin protein in developing erythrocytes, which leads to ineffective erythropoiesis and the development of moderate to severe anemia.2,3,5 Patients with beta-thalassemia major typically present with clinical symptoms by 2 years of age and require red blood cell transfusions to survive; however, regular transfusions may lead to iron overload and potentially life-threatening complications.1,3,6

Landscape

The need for additional treatment options in beta-thalassemia remains high. Investigational therapies include erythroid maturation agents, gene therapy, and gene editing, which aims to correct the imbalance between α-globin and β-globin that is characteristic of beta-thalassemia.7

Read more Collapse

The safety and efficacy of the agents and/or uses under investigation have not been established. There is no guarantee that the agents will receive health authority approval or become commercially available in any country for the uses being investigated.

View Molecular Pathways

In Our Pipeline

Choose filters to find specific trials in the BMS pipeline.

Filter trials by:

STATUS

PHASE

trials
View Beta-Thalassemia Trials Through Our Pipeline

To search for clinical trials with other recruiting statuses,
please visit bolderscience.com.

Clinical trial information is sourced from ClinicalTrials.gov. Information is updated manually as clinical trials are published. The efficacy and safety of the agents and/or uses under investigation have not been established. There is no guarantee that the agents will receive health authority approval or become commercially available in any country for the uses being investigated.

References

  1. de Dreuzy E, et al. Biomed J. 2016;39:24-38. PMID: 27105596
  2. Mettananda S, et al. Blood. 2015;125:3694-3701. PMID: 25869286
  3. Ginzburg Y, Rivella S. Blood. 2011;118:4321-4330. PMID: 21768301
  4. Galanello R and Origa R, Orphanet J Rare Dis. 2010;5:11. PMID: 20492708
  5. Glaser A, et al. F1000Res. 2015;4:1431. PMID: 26918126
  6. Cappellini MD, et al. Thalasseaemia International Federation. 3rd edition. 2014.
  7. Cappellini MD, et al. Blood Rev. 2018;32:300-311. PMID: 29455932