Edition of 16 May 2023

A new article published in Expert Review of Pharmacoeconomics & Outcomes Research reviews methodological recommendations for the economic evaluation of cell and gene therapies, and the extent to which these recommendations have been implemented in published evaluations.

Economic evaluation for gene therapy is challenging, as they typically have significant up-front costs, combined with a lack of robust clinical evidence. As a result, the health technology assessment (HTA) process for such therapies is complex and has not yet reached a status quo. In fact, there is no overall consensus on the best methodology for any aspect of gene therapy economic evaluation. However, as the number of available therapies is expected to increase significantly in the near future thanks to ongoing scientific advances, it is important to develop and begin applying standardised methodological approaches to ensure that new therapies will be made available to patients in a timely manner.

Through a systematic literature review, the authors identified 21 methodologic recommendations for the economic evaluation of gene therapies which reached consensus thresholds. However, of the published evaluations studies, the vast majority did not apply published recommendations and were based on naïve treatment comparisons. This demonstrates that even when recommendations are being developed or exist, they are not being applied to actual studies. Given the unique challenges associated with these therapies, novel approaches may be needed to address them within the field of health economics. For this reason, the authors recommend that researchers conducting work on gene and cell therapies make an effort to research and implement existing methodological recommendations before undertaking such studies.

A new article published in the Orphanet Journal of Rare Diseases uses experience from Castleman disease to propose a framework for a collaborative, crowdsourcing approach to setting research agendas in rare diseases.

Traditionally, organisations fund research by selecting the most qualified applicant who responds to a call for proposals on a pre-defined research topic. However, this can cause challenges in the field of rare diseases, as the limited number of researchers means that there can be a lack of high-impact proposals submitted by highly qualified teams.

The Collaborative Network Approach (CNA), as it was first implemented by the Castleman Disease Collaborative Network (CDCN), seeks to circumvent these limitations by engaging all stakeholders to identify and prioritise high-impact research questions. Through this process, various outreach activities are used to identify members of the disease community; the research agenda is then co-generated by crowdsourcing topics of importance, qualified researchers are identified, and studies begin as soon as funding has been secured.

In the case of Castleman disease, the CDCN was successful in generating a set of patient-centred research questions which have since helped guide the Network’s research activities. The CNA therefore represents a useful tool for organisations looking to coordinate community-led research activities in other rare diseases as well.

Recently, an article was published in the Orphanet Journal of Rare Diseases discussing the major components of and considerations for decentralised clinical trials (DCTs), particularly as they relate to rare diseases.

Traditional models of clinical trials often require participants to travel long distances to centralised treatment sites in order to undergo tests and procedures. This can pose a significant burden on patients and their families; particularly in the case of rare diseases, which often affect children and/or cause significant physical or cognitive impairment. There are subsequent consequences for recruitment, compliance, and retention of participants in clinical research.

Recently, DCTs have been proposed as a possible solution to these challenges. As the name suggests, DCTs draw on emerging technologies and telehealth services to allow virtual participation in clinical trials. In cases where tests necessitating physical presence cannot be avoided, a hybrid approach can still be used to minimise the burden of participation. In addition, DCTs make clinical research more accessible to patients who live in remote areas, which can enhance the diversity of study populations and therefore improve the external validity of the findings.

Because of their novel status and reliance on telehealth services, there are a number of regulatory considerations associated with undertaking a DCT. Their decentralised nature means that they can be more complex from a regulatory standpoint, as different participants may be subject to different requirements. Additionally, data governance is a concern when it comes to patient privacy.

There is limited regulatory guidance specific to DCTs available in most regions, making these and other considerations difficult to navigate. However, their value to complement the data generated by traditional RCTs should not be ignored, particularly in terms of expanding the pool of patients who are able or willing to participate.

A new study published in the Journal of Patient-Centered Research and Reviews explores the attitudes of the sickle cell disorder (SCD) community towards health data sharing, providing a roadmap for future, similar research in other rare diseases.

In this study, researchers used an online focus group to analyse the attitudes towards data sharing of adults living with SCD in the United Kingdom. Overall, it was found that patients are experts by experience, rather than passive data providers, and that their perspectives are of great value to the medical community. This reinforces the importance of patient-centred care and research, and affirms the right of patients to have a say in the use and sharing of their data.

Five specific motivators for data sharing were identified among the focus group participants. These were: improving awareness; knowing it would help others; evidencing impact; financial incentives; and being recognised as “experts with lived experience” rather than “specimens to be studied.” A number of barriers were also identified, such as a lack of clarity regarding the underlying purpose and involved parties; perceived risk associated with sensitive data; and a lack of control or evidence of change resulting from data sharing.

Better understanding the driving forces behind patients’ decisions to share or not share their health data can help researchers and clinicians work with patients to get access to the data they need, while respecting the patients’ governance over their data. This is particularly important in rare diseases, where small patient populations make data sharing a vital resource for knowledge generation. Similar studies conducted in other disorders would ensure that these findings can be used to facilitate data sharing not just in SCD, but across the spectrum of rare diseases.