Beta Thalassemia – Landscape & Forecast – Disease Landscape & Forecast
Beta thalassemia (BT) is a rare genetic disorder characterized by the reduced production of hemoglobin. It is caused by a mutation in one hemoglobin beta (HBB) gene (beta thalassemia minor) or a mutation in both HBB genes (beta thalassemia major; some patients with mutations in both genes can be classified as beta thalassemia intermedia). The mutation can cause jaundice, failure to thrive, and chronic anemia. Management of BT was once limited to regular blood transfusions and iron chelators; however, more-recent therapies such as Bristol Myers Squibb / Acceleron’s Reblozyl and Bluebird Bio’s Zynteglo offer a more-promising future. Reblozyl, an erythropoietin maturation therapy, launched in the United States in late 2019 and in Europe beginning in 2020 to treat anemia in adult patients. Zynteglo, a LentiGlobin vector-based gene therapy, is expected to launch in the United States in 2022; the therapy was available in Europe but was withdrawn by Bluebird Bio because of unfavorable pricing negotiations. Strong unmet need remains for universally curative therapies that improve patients’ quality of life. Drug developers are focusing on agents that target the underlying genetic defect and reduce the transfusion burden.
Questions Answered:
GEOGRAPHIES
United States, EU5
PRIMARY RESEARCH
Six country-specific interviews with thought-leading hematologists
Supported by survey data collected for this study
EPIDEMIOLOGY
Diagnosed prevalent and drug-treatable cases of beta thalassemia by country, segmented by severity, genotype, and availability of HLA-matched sibling HSCT donor
FORECAST
Drug-level sales and patient shares of key beta thalassemia therapies through 2031, including Reblozyl and Zynteglo
EMERGING THERAPIES
Phase II: 6 drugs; coverage of select early-phase products
Marketed drugs: 2
Product Description
Niche & Rare Disease Landscape & Forecast: Comprehensive market intelligence providing world-class epidemiology, keen insight into current treatment paradigms, in-depth pipeline assessments, and drug forecasts supported by detailed primary and secondary research.
Table of contents
- Beta Thalassemia - Landscape & Forecast - Disease Landscape & Forecast
- Key findings
- Beta thalassemia - key findings
- Commercial outlook
- Key findings
- Regional sales of key emerging therapies to treat beta thalassemia: 2031
- Beta thalassemia SWOT analysis
- Drivers and constraints
- What factors are driving the market for beta thalassemia?
- What factors are constraining the market for beta thalassemia?
- Gene therapy-specific trends
- Ligand trap receptor-specific trends
- Alternative market scenarios
- Alternative scenarios for the beta thalassemia market through 2031
- Key findings
- Forecast
- Zynteglo sales to treat beta thalassemia in the major pharmaceutical markets: 2021-2031
- Luspatercept sales to treat beta thalassemia in the major pharmaceutical markets: 2021-2031
- Etiology and pathophysiology
- Disease overview
- Etiology
- The HBB gene and u03b2-globin
- Notable transcription factors involved in globin gene activation and switching
- Genotype / phenotype relationship
- Genotype / phenotype relationship in beta thalassemia
- Pathophysiology
- Ineffective erythropoiesis
- Iron overload
- Symptoms of beta thalassemia
- Symptomology prominent in thalassemia intermedia resulting from extramedullary hematopoiesis
- Key pathways and drug targets
- Hemoglobin subunit development
- Key pathways and targets in beta thalassemia
- Key pathways and targets in beta thalassemia
- Disease overview
- Epidemiology
- Key findings
- Epidemiology populations
- Disease definition
- Methods
- Sources used for diagnosed prevalence of beta thalassemia
- Number of diagnosed prevalent cases of beta thalassemia in the major pharmaceutical markets: 2021-2031
- Disease definition
- Methods
- Sources used for severity of beta thalassemia
- Number of diagnosed prevalent cases of beta thalassemia in the major pharmaceutical markets by severity: 2021-2031
- Disease definition
- Methods
- Sources used for prevalent cases of beta thalassemia major by genotype
- Number of diagnosed prevalent cases of beta thalassemia major in the major pharmaceutical markets by genotype: 2021-2031
- Disease definition
- Methods
- Sources used for matched related HSCTs among prevalent cases of beta thalassemia major
- Number of diagnosed prevalent cases of beta thalassemia major genotype u03b20/u03b20 in the major pharmaceutical markets by status of matched related HSCT: 2021-2031
- Number of diagnosed prevalent cases of beta thalassemia major genotype u03b2+/u03b2+ in the major pharmaceutical markets by status of matched related HSCT: 2021-2031
- Number of diagnosed prevalent cases of beta thalassemia major genotype u03b20/u03b2+ in the major pharmaceutical markets by status of matched related HSC transplantation: 2021-2031
- Disease definition
- Methods
- Sources used for prevalent cases of beta thalassemia intermedia by transfusion requirement
- Number of diagnosed prevalent cases of beta thalassemia intermedia in the major pharmaceutical markets by transfusion requirement: 2021-2031
- Methods
- Sources used for drug-treatment rates of beta thalassemia
- Key findings
- Current treatment
- Key findings
- Diagnosis
- Treatment providers and referral patterns
- Expert insight: diagnosis of beta thalassemia
- Treatment goals
- Key endpoints used in clinical trials for beta thalassemia
- Key current therapies
- Overview
- Mechanism of action of key treatments used for beta thalassemia
- Current treatments used for beta thalassemia
- Advantages and disadvantages of transfusion therapy
- Expert insight: transfusion therapy
- Expert insight: iron chelators
- Clinical trial outcomes for deferoxamine
- Advantages and disadvantages of deferoxamine
- Expert insight: deferoxamine
- Clinical trial outcomes for deferasirox
- Advantages and disadvantages of deferasirox
- Key results from select clinical trials investigating deferasirox for the treatment of beta thalassemia
- Expert insight: deferasirox
- Clinical trial outcomes for deferiprone
- Advantages and disadvantages of deferiprone
- Key results from select clinical trials investigating deferiprone for the treatment of beta thalassemia
- Expert insight: deferiprone
- Advantages and disadvantages of HSCT
- Expert insight: hematopoietic stem cell transplantation
- Luspatercept clinical development
- Clinical trial outcomes for luspatercept
- Key ongoing clinical trials of luspatercept in the treatment of beta thalassemia
- Advantages and disadvantages of luspatercept
- Expert insight: luspatercept
- Medical practice
- Overview
- Country and regional beta thalassemia treatment guidelines
- Key findings
- Unmet need overview
- Current and future attainment of unmet needs in beta thalassemia
- Top unmet needs in beta thalassemia: current and future attainment
- Expert insight: unmet needs in beta thalassemia
- Emerging therapies
- Key findings
- Key emerging therapies
- Key therapies in late-phase development for beta thalassemia
- Estimated launch dates of key emerging therapies for the treatment of beta thalassemia
- Zynteglo administration process
- Zynteglo profile
- Zynteglo clinical development
- Key clinical trials of Zynteglo in the treatment of beta thalassemia
- Expert insight: Zynteglo
- Expectations for launch and sales opportunity of Zynteglo in beta thalassemia
- Mitapivat profile
- Key ongoing clinical trials of mitapivat in the treatment of beta thalassemia
- Analysis of the clinical development program for mitapivat
- Expert insight: mitapivat
- Expectations for launch and sales opportunity of mitapivat in beta thalassemia
- Early-phase pipeline analysis
- Notable developments in the early-phase pipeline for beta thalassemia
- Select compounds in early-phase development for beta thalassemia
- Expert insight: early-phase pipeline
- Patient registries
- Patient registries for beta thalassemia
- Prominent beta thalassemia patient organizations
- Orphan-drug designation
- Key findings
- Access and reimbursement overview
- Region-specific reimbursement practices
- Region-specific reimbursement practices
- Appendix
- Beta thalassemia bibliography
- Abbreviations
- Key findings
Muthana Sweis, M.P.H., is an analyst on the Infectious, Niche, and Rare Diseases team at Clarivate. He conducts primary and secondary research for a range of indications and authors reports related to his findings. He earned his master’s degree in public health from DePaul University.