Orphan Drugs and Potential Novel Approaches for Therapies of β-Thalassemia: Current Status and Future Expectations

Introduction: The β-thalassemias are rare diseases caused by more than 300 different mutations of the adult β-globin genes: they are treated with blood transfusions, chelation therapy or bone marrow transplantation.Areas Covered: This article reviews orphan drugs, related patent applications and related clinical trials on β-thalassemia, including novel therapeutic approaches and repurposing of orphan drugs.Expert Opinion: Patient stratification is expected to be applied for personalized therapeutic interventions for β-thalassemia patients. This will cover primary mutations of the β-globin gene and DNA polymorphisms that predict severity of the disease and response to therapy. Improved understanding of the regulation of γ-globin gene expression and the optimization of novel approaches for gene editing are expected to introduce innovative orphan drugs and/or approaches for fetal hemoglobin induction and gene correction, respectively. The possible combination between gene therapy and cellular therapy, including gene-correction, presents a new opportunity. A dramatic increase in the need for cellular biobanking (including also cord blood biobanking) is expected, given the possibility to intervene on patients-derived cells with bone marrow transplantation and/or generated induced pluripotent stem cells. The repurposing of drugs used in clinical trials for different pathologies is an interesting approach to providing novel drugs at low cost.