Beta thalassemia is an inherited blood disorder caused by mutations in the beta-globin gene, reducing or eliminating normal hemoglobin production and leading to severe anemia that requires regular red blood cell transfusions in the most serious (transfusion-dependent) form. Chronic transfusions cause iron overload that can damage the heart, liver, and endocrine glands.
What's actually going on in research
Allogeneic stem cell transplantation can cure beta thalassemia in patients with a suitable donor, but most lack a well-matched sibling. Two gene therapies — betibeglogene spartacus and exagamglogene autotemcel (exa-cel, a CRISPR-based therapy) — have received regulatory approval in recent years, marking transformative advances. Trials are now focused on access, long-term safety, and extending these treatments to more patients globally.
Gene therapy and gene editing
Betibeglogene spartacus (a lentiviral gene addition therapy) and exa-cel (CRISPR Cas9 editing of BCL11A) are both now approved, with ongoing trials tracking long-term outcomes and exploring next-generation approaches.
Fetal hemoglobin induction
Drugs including luspatercept, hydroxyurea, and novel BCL11A inhibitors that reactivate fetal hemoglobin are in trials for patients who cannot access gene therapy, aiming to reduce transfusion burden.
Iron overload management
Trials are refining the use of oral iron chelators such as deferasirox and deferiprone to reduce the cumulative organ damage caused by decades of transfusion-related iron loading.
What to know before you search
Eligibility for gene therapy trials depends on transfusion burden, prior transplant history, age, and specific beta-globin mutations.
What types of trials are currently open
- Gene therapy trials — Testing lentiviral gene addition and CRISPR-based editing approaches to achieve transfusion independence.
- Fetal hemoglobin induction trials — Evaluating drugs that reactivate gamma-globin to compensate for deficient beta-globin.
- Stem cell transplant trials — Refining donor selection and conditioning for curative transplantation in transfusion-dependent patients.
- Iron chelation trials — Comparing chelation regimens and combination strategies to reduce iron overload complications.
- Quality of life trials — Studying the impact of achieving transfusion independence on organ function, growth, and daily life.
Recently added Beta Thalassemia trials
Single-dose Pharmacokinetics of Pociredir in Participants With Sickle Cell Disease
This clinical trial is a study to evaluate the pharmacokinetics of the tablet formulation Pociredir in fasted and fed state participants with Sickle Cell Disease (SCD).
A Real-World Study to Evaluate Luspatercept in Adults With Transfusion-Dependent Beta-Thalassemia in the Middle East
The purpose of this study is to evaluate luspatercept treatment in adults with transfusion-dependent beta-Thalassemia in the Middle East
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