Ethical Considerations of Friedreich’s Ataxia Treatment

A recently published article in the International Journal for Equity in Health investigated the current and emerging treatment strategies available to Friedreich’s ataxia (FRDA) patients and the ethical issues they raise. Faith A.A. Kwa and Evie Kendal, Ph.D., of Swinburne University of Technology in Melbourne, Australia, said they were examining FRDA as an example “to explore some of the practical and ethical issues emerging in precision medicine for rare diseases.”

Kwa and Kendal take up the ethical, practical, and social dilemmas that arise in the context of precision medicine for rare diseases such as FRDA. Here are some of the topics they addressed:

• Resource allocation and equity of access. Access to existing and potential treatments is uneven across geographic locations, age groups, and socioeconomic statuses, raising concerns about fairness in health care provision. The high cost of developing and providing treatments for FRDA poses significant resource allocation dilemmas, potentially limiting access to those who can afford it or meet strict eligibility criteria.
• Balancing benefits and risks. As novel gene therapies emerge, there is a complex interplay between their potential benefits, the burdens they may impose, and the risks involved, particularly when treating vulnerable populations such as children. Novel gene therapies, including those using CRISPR-Cas9, carry risks such as off-target effects, on-target effects, epigenetic effects and chimerism. ​Kwa and Kendal say these potential risks must be carefully managed to ensure patient safety.
• Informed consent. The necessity of obtaining informed consent in the context of innovative therapies is critical. The authors added that patients, particularly minors, need to be adequately informed about the risks and benefits of gene therapy without falling into exploitative practices or medical paternalism. They further emphasized the importance of ensuring patients and families understand the risks and benefits of novel therapies, especially given the disease's variability and the potential for significant lifestyle changes. All communication needs to be as transparent as possible.

Kwa and Kendal also indicated that although advances in gene therapy present promising avenues for treating FRDA, several barriers hinder equitable access to these therapies. These barriers include the accessibility of treatments, financial obligations and treatment costs and clinical trial eligibility.

The only clinically approved drug, Skyclarys (omaveloxolone), is restricted based on age and geographic location, which raises significant ethical concerns for patients needing treatment. The high costs associated with the existing therapy and the anticipated costs of future treatments may exacerbate disparities in healthcare outcomes, particularly for low-income families, warn Kwa and Kendal. Lastly, experimental treatments in clinical trials often necessitate strict eligibility criteria, limiting access for patients who do not meet these conditions.

As managed care organizations continue to include health disparity and equity research and data in their healthcare decision-making processes, the ethical considerations for rare diseases should be part of the discussion, according to Kwa and Kendal. These considerations likely impact policy development, cost management strategies, informed consent protocols, and research and clinical trial development.

Frameworks that ensure all patients have access to therapy and avenues to make therapy financially feasible must be developed to support families and patients with rare diseases. As Kendal and Kwa described, the ethical complexities involved in managing rare diseases highlight the necessity for equitable, transparent and accessible healthcare strategies in the era of precision medicine.