Disease

beta-Thalassemia

Late-stage therapeutic developmentEmerging research

MeSHbeta-Thalassemia

Publications

Clinical trials

Related conditions

Associated genes

Related proteins

2024

Latest publication

Latest activity

beta

Recent clinical, regulatory, research and industry developments relating to this disease.

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-Thalassemia.

Research2024-03-01Medical science monitor : international medical journal of experimental and clinical research

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia.

Research2020-12-05The New England journal of medicine

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate

Key developments

4 clinical trials expected to report results, the earliest in Q4 2026.

Upcoming Milestones

Major developments

Major trial resultsHigh impact

A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Mitapivat in Subjects With Non-Transfusion-Dependent Alpha- or Beta-Thalassemia (ENERGIZE)

Results posted2026-08-27

Major trial resultsHigh impact

A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Mitapivat in Subjects With Transfusion-Dependent Alpha- or Beta-Thalassemia (ENERGIZE-T)

Results posted2026-06-23

Clinical Milestones8View

Results posted 2

Results expected 4

2026-07-13Matched Related Donor Non-myeloablative Hematopoietic Cell Transplantation With Alemtuzumab, 400 cGy TBI, and Abatacept for Sickle Cell Disease and Beta-ThalassemiaResults expected Q2 2032
2026-07-01A PHASE 2, TWO-PART, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTICENTER STUDY TO EVALUATE THE EFFICACY, SAFETY, AND TOLERABILITY OF SUBCUTANEOUSLY ADMINISTERED REGN7999 (AN INHIBITOR OF TMPRSS6) IN PARTICIPANTS WITH IRON OVERLOAD DUE TO NON-TRANSFUSION DEPENDENT β-THALASSEMIAResults expected Q4 2026
2026-07-01A Phase 3 Study to Evaluate the Safety and Efficacy of a Single Dose of CTX001 in Pediatric Subjects With Transfusion-Dependent β-ThalassemiaResults expected Q4 2027
2026-07-01A Phase 3b, Open-label, Single-arm, Rollover Study to Evaluate Long-term Safety in Subjects Who Have Participated in Other Luspatercept (ACE-536) Clinical TrialsResults expected Q2 2028

Recently completed 2

Activity timeline8

2026-08-27ClinicalA Phase 3, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Mitapivat in Subjects With Non-Transfusion-Dependent Alpha- or Beta-Thalassemia (ENERGIZE)Results posted
2026-07-13ClinicalMatched Related Donor Non-myeloablative Hematopoietic Cell Transplantation With Alemtuzumab, 400 cGy TBI, and Abatacept for Sickle Cell Disease and Beta-ThalassemiaResults expected Q2 2032
2026-07-01ClinicalA PHASE 2, TWO-PART, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTICENTER STUDY TO EVALUATE THE EFFICACY, SAFETY, AND TOLERABILITY OF SUBCUTANEOUSLY ADMINISTERED REGN7999 (AN INHIBITOR OF TMPRSS6) IN PARTICIPANTS WITH IRON OVERLOAD DUE TO NON-TRANSFUSION DEPENDENT β-THALASSEMIAResults expected Q4 2026
2026-07-01ClinicalA Phase 3 Study to Evaluate the Safety and Efficacy of a Single Dose of CTX001 in Pediatric Subjects With Transfusion-Dependent β-ThalassemiaResults expected Q4 2027
2026-07-01ClinicalA Phase 3b, Open-label, Single-arm, Rollover Study to Evaluate Long-term Safety in Subjects Who Have Participated in Other Luspatercept (ACE-536) Clinical TrialsResults expected Q2 2028
2026-06-23ClinicalA Phase 3, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Mitapivat in Subjects With Transfusion-Dependent Alpha- or Beta-Thalassemia (ENERGIZE-T)Results posted
2026-02-09ClinicalEffects of Hydroxyurea and Metformin in Transfusion Dependent Beta-ThalassemiaCompleted
2025-11-13ClinicalA Phase 1/2/3 Study of the Safety and Efficacy of a Single Dose of Autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (hHSPCs) in Subjects With Transfusion-Dependent β-ThalassemiaCompleted

Clinical trials

14 sponsors · 1 new · 2 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Late-stage studies

Phase 3 · Active, not recruiting · Agios Pharmaceuticals, Inc.

A Phase 3b, Open-label, Single-arm, Rollover Study to Evaluate Long-term Safety in Subjects Who Have Participated in Other Luspatercept (ACE-536) Clinical Trials

Phase 3 · Recruiting · Celgene

A Phase 3 Study to Evaluate the Safety and Efficacy of a Single Dose of CTX001 in Pediatric Subjects With Transfusion-Dependent β-Thalassemia

Phase 3 · Active, not recruiting · Vertex Pharmaceuticals Incorporated

Effects of Hydroxyurea and Metformin in Transfusion Dependent Beta-Thalassemia

Phase 4 · Completed · Bahria University

A Phase 1/2/3 Study of the Safety and Efficacy of a Single Dose of Autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (hHSPCs) in Subjects With Transfusion-Dependent β-Thalassemia

Phase 2/3 · Completed · Vertex Pharmaceuticals Incorporated

Recruiting

A Phase 3b, Open-label, Single-arm, Rollover Study to Evaluate Long-term Safety in Subjects Who Have Participated in Other Luspatercept (ACE-536) Clinical Trials

Phase 3 · Recruiting · Celgene

Phase 1/2 · Recruiting · National Heart, Lung, and Blood Institute (NHLBI)

Recently completed

Effects of Hydroxyurea and Metformin in Transfusion Dependent Beta-Thalassemia

Phase 4 · Completed · Bahria University

Phase 2/3 · Completed · Vertex Pharmaceuticals Incorporated

Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Treatment: a Multi-center, Open, Randomized, Controlled Clinical Study

Phase 4 · Completed · Zhongming Zhang

A Phase 3, Double-Blind, Placebo Controlled Multicenter Study to Determine the Efficacy and Safety of Luspatercept (ACE-536) in Adults With Transfusion Dependent Beta (B)-Thalassemia

Phase 3 · Completed · Celgene

A Phase II, Multi-center, Single-arm, Prospective Study to Evaluate the Safety and Efficacy of Deferasirox in Beta-thalassemia Major Patients After Hematopoietic Stem Cell Transplantation.

Phase 4 · Completed · Novartis Pharmaceuticals

Research activity

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time

20212024

Most influential

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia.

The New England journal of medicine · 2021 · 1,252 cites

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-Thalassemia.

Medical science monitor : international medical journal of experimental and clinical research · 2024 · 51 cites

Recent publications

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-Thalassemia.

Medical science monitor : international medical journal of experimental and clinical research · 2024 · 51 cites

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia.

The New England journal of medicine · 2021 · 1,252 cites

Major themes4

Anemia, Sickle Cell1
beta-Thalassemia1
CRISPR-Cas Systems1
Genetic Therapy1

Leading journals2

Medical science monitor : international medical journal of experimental and clinical research1
The New England journal of medicine1

Leading researchers8

Altshuler D1
Cappellini MD1
Chen YS1
Corbacioglu S1
de la Fuente J1
de Montalembert M1
Domm J1
Eustace BK1

Affiliations (unnormalised)1

From the Sarah Cannon Center for Blood Cancer at the Children's Hospital at TriStar Centennial1

Associated genes

7 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

HBB0.79 HBA20.48 TGFB10.48 BCL11A0.44 HBG20.34 PKLR0.34 HBE10.34

Disease biology

3 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Transforming growth factor beta-1 proproteinvia TGFB10.48 BCL11 transcription factor Avia BCL11A0.44 Pyruvate kinase PKLRvia PKLR0.34

Related conditions

1 match

Diseases frequently studied alongside this one. Number shows shared papers.

Anemia, Sickle Cell2

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.

Identifiers

MeSHbeta-Thalassemia

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
Related entities are derived from literature co-mention (studied together) — associative, not causal.