Advances in pharmacotherapy for sickle cell disease: what is the current state of play?

ABSTRACT

Introduction

Despite over 100 years of neglect and insufficient funding, sickle cell disease has risen to the top of the discussions due to the recent approval of two new genetic therapies. Prior to these approvals, there were only four prior approved medications for sickle cell disease in spite of being the most common inherited blood disorder. The advent and expense of these new genetic therapies have finally brought the trials and tribulations associated with SCD including the suffering and early mortality of affected individuals to the much-needed limelight. Presently, questions about how these therapies will be used and what that means for ongoing pharmaceutical development remain.

Areas covered

Here, we wish to highlight the current medications and treatments for SCD using already published literature as well as scrutinize the tedious process of implementation for these newly approved commercial genetic therapies.

Expert opinion

In our expert opinion, despite the progress we have made, significant challenges remain and the most important requirement for any of these treatments is ensuring all affected individuals have access to a sickle cell specialist who can provide comprehensive care.

KEYWORDS:

• Sickle cell
• hemoglobinopathy
• health disparity
• targeted therapy
• gene therapy

Article highlights

• Patients with sickle cell disease receive the best care from providers engaged in comprehensive care, ideally within a dedicated sickle cell center whenever possible.

• Disease-modifying therapies are the cornerstone of SCD treatment, but they remain inadequate, necessitating further research and development in this area.

• The transformative potential of gene therapy for SCD requires careful patient selection and ongoing discussions to identify the right candidates.

• The psychological impact of gene therapy and the resulting changes in post-treatment identity are profound, necessitating thorough patient preparation and robust psychosocial support.

• Determining how gene therapy will be reimbursed by commercial and governmental payers remains an unresolved issue.

• Significant gaps persist in delivering SCD care to regions with the highest prevalence, underscoring the need to address the global burden of the disease.

Declaration of interest

S Alan serves on the Speaker’s Bureau for Pfizer (ongoing), has received research funding from Pfizer and participated in a consultation meeting for Agios (November 2023). J Kanter serves on the Scientific Advisory Board for Pfizer, Novartis, Bluebird Bio, Fulcrum, Novo-Nordisk, Chiesi and Merck. She has also served as a Consultant for: Novartis, Bluebird Bio, Fulcrum, Novo-Nordisk, Beam, and Bristol-Myers-Squibb. She has also given medical education lectures to Sanofi and Novo-Nordisk. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.