Beta thalassemia is an inherited blood disorder that reduces hemoglobin production, causing anemia that ranges from mild to life-threatening. People with severe forms require regular blood transfusions and iron chelation therapy. The treatment landscape has expanded dramatically in recent years, now including gene therapies that offer potential functional cures.
What's actually going on in research
Trials are testing gene therapies that add working copies of the beta-globin gene or reactivate fetal hemoglobin production, luspatercept to improve anemia, new oral iron chelators, and gene editing approaches using CRISPR. Two gene therapies received FDA approval in 2023, marking the first curative options beyond bone marrow transplant.
Gene therapy
Betibeglogene autotemcel (Zynteglo) and exagamglogene autotemcel (Casgevy) are now FDA-approved one-time treatments that modify a patient's own stem cells. Many people treated no longer need transfusions.
Gene editing
CRISPR-based therapies turn on fetal hemoglobin genes that normally shut off after birth. This allows the body to compensate for defective adult hemoglobin production.
Luspatercept
This drug helps the body make red blood cells more efficiently and is FDA-approved for reducing transfusion burden in beta thalassemia. Studies are exploring whether it works in people who don't currently need transfusions.
What to know before you search
Eligibility typically depends on transfusion frequency, age, prior treatments, liver and heart function from iron overload, and availability of matched siblings for some gene therapy protocols.
What types of trials are currently open
- Gene therapy trials — One-time treatments that collect your stem cells, modify them to produce working hemoglobin, then return them after chemotherapy. Most require staying near the treatment center for several weeks.
- Gene editing trials — Similar to gene therapy but using CRISPR to edit genes in your cells rather than adding new ones. The goal is to eliminate or reduce the need for transfusions.
- Drug trials — Testing medications like luspatercept that help reduce anemia and transfusion needs, or new iron chelators that remove excess iron with fewer side effects.
- Combination therapy trials — Studies testing whether combining different treatments works better than single approaches.
- Long-term follow-up studies — Tracking people who received gene therapies to monitor durability of response and late effects.
Recently added Beta Thalassemia trials
Gene-Modified Stem Cell Therapy for Subjects With Transfusion-dependent Beta-thalassemia
This is a prospective, dual-centre, single dose, Phase IIb, single arm, open label study. The proposed clinical trial involves a single infusion of autologous HSPCs genetically modified with the GLOBE lentiviral vector, using an improved transduction protocol in 9 patients affected by transfusion dependent Beta-Thalassemia. Four study phases are foreseen: 1. Screening phase, during which the conditions required by the clinical protocol for patients' inclusion/exclusion will be assessed after the signature of the informed consents/assents. Patients will be recruited from the two participating sites: IRCCS Ospedale San Raffaele (OSR), Department of Pediatric Immunohematology and adult Hematology (OSR Stem Cells Programme) (Milan) and IRCCS Ospedale Pediatrico Bambino Gesù (OPBG), Department of Haematology, Oncology and Gene and Cell Therapy (Rome). 2. Baseline phase, carried from the end of the screening phase to the day before the start of the conditioning regimen. 3. Treatment phase, from the first day of conditioning regimen until DP administration. 4. Follow-up phase: from DP administration until 2 years follow-up.
Donate blood samples to study transfusion effects in premature infants
Reactive oxygen species (ROS), which include peroxides, are generated in the human body as by-products of cellular metabolism. In small amounts, they fulfill important physiological functions. However, when produced in excess, they can damage cells and tissues. Extremely low gestation age neonates (ELGANs) are particularly vulnerable to such harmful effects because their antioxidant defense systems are immature, and they are exposed to increased ROS levels due to the oxygen therapy required after birth. Fetal hemoglobin (HbF), the primary oxygen carrier in the blood of newborns, plays a crucial role in this context. Compared with adult hemoglobin (HbA), it has a higher oxygen affinity and a more pronounced pseudoperoxidase activity, which helps protect organs during early development from peroxides. In addition to oxygen administration, blood transfusions can also contribute to increased ROS formation. Due to the immature hematopoietic system and the diagnostic blood sampling required, ELGANs frequently receive transfusions with adult red blood cell (A-RBC) concentrates. These lead to a rapid shift from HbF to HbA, further promoting the generation of ROS. Measuring ROS in blood is particularly challenging because these molecules are extremely short-lived. Consequently, reference values for newborns are lacking. Therefore, the investigators aim to establish reference ranges for one ROS, the peroxide in both term and preterm healty neonates from birth event onward and to assess the effects of A-RBC transfusions on this parameter in ELGANs. Furthermore, combining near-infrared spectroscopy-derived measurements of cerebral regional tissue oxygenation with peroxide assessments requiring only minimal blood volumes (0.5 mL per sample) will provide a more comprehensive and quantitatively robust understanding of the physiological changes induced by A-RBC transfusions in ELGANs. Excessive ROS exposure is considered a key risk factor for severe complications of prematurity, including brain injury, retinopathy, and chronic lung disease. With this project, investigators aim to improve the understanding of these risks and promote new evidence-based strategies in transfusion medicine. In the long term, transfusions with HbF-rich red blood cells derived from cord blood could help reduce ROS formation and provide effective protection for particularly vulnerable preterm infants.
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