Investigational drugs in phase I and phase II clinical trials for thalassemia

Irene Motta, Natalia Scaramellini, Maria Domenica Cappellini

Research output: Contribution to journalReview articlepeer-review


Introduction: Regular transfusion and iron chelation are the current treatment of severe forms of thalassemia. As a consequence of this demanding supportive treatment, there are several unmet therapeutic needs. Due to a deeper understanding in the pathophysiology of thalassemia, new therapeutic strategies have been developed that are now in pre-clinical and clinical trials. Areas covered: Activin receptor ligand traps (luspatercept and sotatercept), drugs targeting ineffective erythropoiesis, showed encouraging results in Phase I and II clinical trials. A phase III clinical trial is currently ongoing. Ruxolitinib, a Jak2 inhibitor, has been tested to limit stress erythropoiesis in a phase II clinical trial. In addition, improvement in iron chelation has been developed. Moreover, several trials of gene therapy are currently active in different countries with different lentiviral vectors. Expert opinion: The most promising molecules are the activin receptor ligand traps. Together with gene therapy these could be an alternative to bone marrow transplant, aiming towards a curative strategy. The main limit to gene therapy seems to be the conditioning regimen, thus an in vivo gene therapy would be more suitable. At pre-clinical level gene editing is showing extremely encouraging results.

Original languageEnglish
Pages (from-to)793-802
Number of pages10
JournalExpert Opinion on Investigational Drugs
Issue number7
Publication statusPublished - Jul 3 2017


  • Activin receptor ligand trap
  • deferasirox
  • gene editing
  • gene therapy
  • Jak2 inhibitor
  • Thalassemia

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)


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