Edition of 12 April 2023

A new article published in Nature Medicine presents a new initiative tackling the challenges posed by existing models of for-profit drug marketing for promoting access to gene therapies for ultra-rare diseases. In the case of extremely small patient populations, commercialization of such treatments is not economically fit for purpose and sponsors are often unwilling to continue their involvement.

In order facilitate sustainable, affordable access to such therapies, the authors established the Access to Gene Therapies for Rare Diseases (AGORA) initiative, a team of clinical academics, scientists, and patient organisations working together to find solutions to these challenges. In the short term, the initiative aims to support academic medical centres and non-profits in seeking regulatory approval and harmonise national activities at the European level. The ultimate goal of AGORA is to create an independent, not-for-profit entity which can sustainably support marketing authorisation, delivery and access to innovative gene therapies for ultra-rare diseases which would not be profitable for commercial sponsors. This will ensure patients living with ultra-rare diseases have access to the best possible treatments, regardless of their financial viability under a for-profit marketing model.

A recent study published in The Lancet Global Health presents the development of a new policy decision tool to help address delays in cancer care for children in low and middle-income countries (LMIC).

The global burden of paediatric cancer is high, with an estimated 85% of cases occurring in LMIC. There are also significant disparities in mortality rates between LMIC and high-income countries. This is thought to be mainly due to the delays in diagnosis and treatment that are experienced in LMIC.

In order to compare delays in paediatric cancer care between countries, the authors developed a composite vulnerability index which was then applied to 134 LMICs. They measured risk factors such as HIV status, parental education, and travel distance using a set of proxy variables, and identified those which were significantly associated with childhood cancer mortality for use in the index. The countries with the highest vulnerability scores were all located in sub-Saharan Africa.

Overall, the vulnerability index provides a holistic, balanced tool for policy makers to employ a strategic approach in combating delays in paediatric cancer care and mortality. It also enables the monitoring of progress towards reducing vulnerability, both at a national and global scale.

A new study published in Research Involvement and Engagement uses mesothelioma as a case study to investigate strategies for improving patient and public involvement (PPI) in research on rare diseases with poor prognoses. Such disorders face specific challenges in PPI due to high levels of psychological and emotional distress, as well as a substantial symptom burden and reduced lifespan. Despite this, evidence suggests that increasing patient involvement in research inspires hope for the future and helps to relieve certain aspects of emotional burden regardless of prognosis.

Mesothelioma is an example of a rare cancer with a prognosis that is typically quite poor. In order to gain broader insights into conducting PPI for other rare diseases, researchers explored the barriers and facilitators to PPI in mesothelioma and worked to develop best practices for engaging patients. In collaboration with patients, carers, and patient organisations, they created a supportive model of PPI for mesothelioma research which is transferable to other diseases. This model includes the establishment of disease-specific PPI groups, working together with patient representatives, and making researchers and service users aware of each other’s work and experiences.

A new article published in Innovations in Clinical Neuroscience explores the role of patient centricity in clinical trial design, with a focus on the paediatric context for rare diseases. It is an expansion on a presentation from a meeting on paediatric drug development which was held in the context of the International Society for Central Nervous System Clinical Trials and Methodology (ISCTM) Autumn Conference in Boston, USA in October 2020. The article includes summaries of the different topics addressed, including learnings from previous trials which did not adequately consult with patients during the design stage; industry perspectives on the importance of patient input; regulatory perspectives from representatives of the US Food and Drug Administration and the European Medicines Agency; and new approaches for prioritising patient versus clinician perspectives.

A new study published in Frontiers in Genetics reveals findings about public attitudes towards big health data collection in South Korea. The authors found that members of the public most valued the use of their data to learn more about health conditions and improve health services, and had concerns regarding data leakage and discrimination.

The National Project of Bio-Big Data (NPBBD) is an initiative which aims to collect health, genomic, and lifelog data from one million South Koreans in order to gain new insights into the prevention and treatment of diseases. The study described in this article aimed to measure public awareness and attitudes towards the Project, in order to guide future participant recruitment and public engagement strategies. Attitudes were generally positive, particularly towards the NPBBD’s potential applications to rare disease research.