Evolving Concept of Value in Health Economics and Outcomes Research: Emerging Tools for Innovation and Access to Cell and Gene Therapies for Rare Diseases.

Objective: Recent scientific breakthroughs have propelled the development of disease-modifying and potentially curative cell and gene therapies (CGTs) for rare diseases, including those diseases previously considered untreatable. However, the unique characteristics of CGTs pose challenges for the traditional methods of therapy value determination, reimbursement, and outcome evaluation used by regulatory and assessment agencies for product approval and market access. Notably, CGTs are one-time or short-course treatments, often first-in-class (precluding direct comparisons with effective alternatives), and have health benefits that are largely realized over time.

Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis.

Background: Spinal muscular atrophy (SMA) is a genetic neuromuscular disease associated with progressive loss of motor function. Risdiplam, a daily oral therapy, was approved in the United States for the treatment of SMA. Risdiplam's effectiveness depends on patient adherence to the treatment regimen.

Cost-utility analysis of newborn screening for spinal muscular atrophy in Japan.

Aims: Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by progressive muscle weakness, atrophy, respiratory failure, and in severe cases, infantile death. Early detection and treatment before symptom onset may substantially improve outcomes, allowing patients to achieve age-appropriate motor milestones and longer survival. We assessed the cost-utility of newborn screening (NBS) for SMA in Japan.

Treatment preferences in spinal muscular atrophy: A swing weighting study for caregivers of patients with SMA types 1 and 2.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by skeletal muscle weakness and atrophy. Patients with SMA types 1 and 2 develop severe disabilities conferring substantial patient and caregiver burden. Caregiver treatment characteristic preferences are useful for informing treatment choices and improving adherence.

Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey.

Introduction: Onasemnogene abeparvovec (OA) is the only gene replacement therapy currently approved for spinal muscular atrophy (SMA) treatment. We sought to assess real-world patient and caregiver outcomes after OA treatment for SMA.

Methods: Patients who received OA were identified from the 2021 Cure SMA Membership Survey.

Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.

Introduction: The recent advent of disease-modifying therapies (DMTs) has dramatically changed the treatment landscape of spinal muscular atrophy (SMA), and the multifaceted impact of this advancement has not been assessed thoroughly in the growing body of literature. We sought to summarize the literature on the natural history of SMA and the impact of SMA DMTs, including health-related quality of life (HRQOL) and utilities, clinical efficacy and safety, and economic impact.

Methods: Systematic literature reviews were conducted following PRISMA guidelines with no inclusive dates.

Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis.

Introduction: Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disorder caused by deletion/mutation of the survival motor neuron 1 gene, characterized by progressive loss of motor neurons, resulting in increasing muscular weakness, deteriorating motor function, and, in its most severe form, death before 2 years. Nusinersen, an antisense oligonucleotide that increases expression of the functional SMN protein, was approved for SMA by US and European regulatory agencies in 2016 and 2017, respectively. The indicated regimen requires intrathecal injections every 4 months, following the first four injections during the loading phase.

An updated cost-utility model for onasemnogene abeparvovec (Zolgensma®) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER).

: Recent cost-utility analysis (CUA) models for onasemnogene abeparvovec (Zolgensma®, formerly AVXS-101) in spinal muscular atrophy type 1 (SMA1) differ on key assumptions and results. : To compare the manufacturer's proprietary CUA model to the model published by the Institute for Clinical and Economic Review (ICER), and to update the manufacturer's model with long-term follow-up data and some key ICER assumptions. : We updated a recent CUA evaluating value for money in cost per incremental Quality-adjusted Life Year (QALY) of onasemnogene abeparvovec versus nusinersen (Spinraza®) or best supportive care (BSC) in symptomatic SMA1 patients, and compared it to the ICER model.

Utilization of multiple-criteria decision analysis (MCDA) to support healthcare decision-making FIFARMA, 2016.

  MCDA is a decision-making tool with increasing use in the healthcare sector, including HTA (Health Technology Assessment). By applying multiple criteria, including innovation, in a comprehensive, structured and explicit manner, MCDA fosters a transparent, participative, consistent decision-making process taking into consideration values of all stakeholders. This paper by FIFARMA (Latin American Federation of Pharmaceutical Industry) proposes the deliberative (partial) MCDA as a more pragmatic, agile approach, especially when newly implemented.