Ethical challenges and opportunities in the development and approval of novel therapeutics for rare diseases

Abstract

The development of novel therapeutics for rare “orphan” diseases has brought a growing tension between the desire to accelerate access to these breakthrough therapies and the need to generate quality evidence regarding their safety and efficacy. Accelerating the pace of drug development and approval may facilitate the rapid delivery of benefits to patients and cost savings for research and development, which theoretically improves affordability of drugs for the health system. However, several ethical challenges arise with expedited approval, compassionate release of drugs, and subsequent study of drugs in “real-world” settings. In this article, we explore the changing landscape of drug approval and the ethical challenges expedited approval creates for patients, caregivers, clinicians, and institutions, and propose tangible strategies to maximize the benefits of “real-world” data acquisition while mitigating risks to patients, clinicians, and institutions.

Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

“…Although these scales have been demonstrated to constitute robust tools to compare populations, individual meaningfulness, especially in older and weaker patients, is not as well established [ 16 ]. This becomes an issue in outcome-based agreements when payers and healthcare systems base their judgment to continue funding treatment at the individual patient level using the magnitude of change in these scales determined by the minimal clinically important differences (MCIDs) as the primary driver in the decision-making process [ 16 , 17 ]. The MCID is usually based on a specific population, typically validated from homogenous and clinical trial-based research groups, leading to greater variability and potentially higher MCIDs for the real-world population [ 18 ].…”

Drug Selection and Posology, Optimal Therapies and Risk/Benefit Assessment in Medicine: The Paradigm of Iron-Chelating Drugs

“…The challenges in drug design, development and use are continuously expanding. In particular, there are many and different regulatory and other approaches for the introduction of drug treatments in millions of patients with chronic and untreatable diseases [51][52][53][54][55][56], in emergency medicine and also in orphan diseases [57][58][59][60][61][62], where drug cost is an important parameter [59][60][61][62]. Many examples of such approaches include the call for emergency medicines in the recent COVID-19 pandemic [63] and the expanding area of drug repurposing [64] in many other untreatable diseases [59][60][61][62][63][64][65][66].…”