Leukodystrophies
https://pmc.ncbi.nlm.nih.gov/articles/PMC12592965
Developing new treatments for rare diseases is difficult because there are often very few patients and limited clinical data. This makes it challenging for healthcare decision-makers to judge whether new medicines are effective and represent good value for money. In these situations, the knowledge and experience of clinical experts, such as specialist doctors and healthcare professionals, can play an important role in filling evidence gaps. However, there is currently little guidance on how expert opinions should be collected and reported specifically for rare diseases. To develop these recommendations, the researchers first reviewed published studies and other sources, such as conference reports, to see how expert judgment has been used in rare diseases. They focused on six countries (the United Kingdom, France, Germany, Canada, Brazil, and Thailand) to understand different healthcare systems and approaches. They then conducted a global survey to gather experiences from clinicians, industry, policymakers, and patient groups about the challenges of using expert judgment. Finally, the findings were discussed at an international roundtable meeting, where experts worked together to agree on practical solutions for designing, conducting, and reporting expert judgment studies. The study found that expert judgment should be planned early in the drug development process and focused on the most important uncertainties that affect reimbursement decisions. Different methods should be used depending on the question being asked, with more structured and time-intensive approaches reserved for complex or high-impact issues. Because there are very few experts in rare diseases, it is important to manage their time carefully, involve a diverse range of professionals, and be transparent about potential conflicts of interest. Overall, these recommendations provide a clear framework for using expert knowledge more effectively when clinical data are limited. By improving how expert judgment is collected and reported, decision-makers can make more informed reimbursement decisions, ultimately helping patients with rare diseases gain access to new treatments.