This is the sixth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Beta Thalassemia”. This article lists new treatment developments as well as new treatments for beta thalassemia (BT).

New Treatment Developments

If you are interested in new treatments, you may want to ask your doctor about clinical trials. A new treatment must go through several phases of testing before it can be proven to work better than existing treatment and be adopted into routine care. A potential treatment will only move on to the next phase of research if it is safe and shows promise.

Clinical Trial Phases

The first phase of testing – phase I – is to make sure a new treatment is safe, find out about its side effects and decide the best dosage. These trials are usually small, with only a few people in each one.

• Phase II trials are larger and find out whether a new treatment is likely to work for a particular medical condition.
• Phase III trials test the new treatment against the standard existing treatment to see which works best. These are the largest trials and are often international, particularly for rare conditions.
• Phase III trials have to be randomized. In randomized trials, patients are put into different groups. A computer is used to decide who is in which group. You cannot choose which group you are in and so some people will not take the new treatment. Randomizing means that the researchers can be more sure that differences in the results at the end of the trial are caused by the treatment being tested.

New Treatments for Beta Thalassemia

There are a few new treatments being tested for BT:

• gene therapy
• treatment to improve red blood cell health and function
• treatment to reduce iron absorption.

Gene Therapy

This type of treatment is showing promising results in treating BT. Scientists take some of your own blood stem cells and insert a Hb gene into them in the laboratory. You then have treatment to destroy your bone marrow cells, before you have the engineered stem cells put back into your bloodstream through a drip.

The process is very similar to having a SCT from a donor, except that your own cells are used. This means the treatment is possible for people who don’t have a donor.

Like having a SCT, gene therapy isn’t easy treatment to get through. You need to have chemotherapy, with all the side effects that brings. However, after the procedure you won’t have to take drugs to damp down your immune system as you’ve had your own blood stem cells and not cells from someone else.

Several trials of gene therapy have been carried out in people with transfusion-dependent BT and other trials are continuing.

A gene therapy was approved in 2022 in the US for people with transfusion-dependent BT.

Improving Red Blood Cell Health

Clinical trials are looking into treating anemia with medication to improve the health, function and survival of red blood cells. In BT, it may mean you don’t need transfusions so often.

Mitapivat is a new treatment that is being tested in people with alpha thalassemia or BT. It’s a tablet that you take twice a day. It’s already used to treat another genetic condition, called pyruvate kinase deficiency.

Mitapivat increases the level of an enzyme that red blood cells need to function properly. This enzyme is low in thalassemic red blood cells.

Early trial results show that mitapivat may help to reduce anemia in people with BT who don’t need regular blood transfusions. Side effects found so far include difficulty sleeping, headache and dizziness.

Mitapivat is being tested in phase III trials for people with BT who don’t need regular transfusions, as well as those who do.

Reducing Iron Absorption

Researchers have identified a natural body hormone called hepcidin that reduces the absorption of iron from the digestive system and helps regulate iron levels in the body. Early trials used drugs that mimic hepcidin. These showed positive effects on iron levels in BT and also on red blood cell production.

A more recent approach uses treatments that target the main regulators of hepcidin. The first clinical trials of these treatments are under way.

Information based on Fast Facts for Patients: Beta Thalassemia (Karger, 2023).