“Negative” Clinical Trials in Rare Diseases and Beyond: Reclassification and Potential Solutions

Currently, all trials, including those in rare diseases, that do not demonstrate a statistically significant benefit (i.e., P < 0.05) on the primary endpoint are classified as “negative”. This classification does not take into account a myriad of factors, including whether the trial was sufficiently powered, or had other statistically significant endpoints, or was terminated before completion, or was even initiated. This paper proposes reclassification of these trials into 5 categories: true negative, underpowered, inadequate, terminated or uninitiated, and valid. These categories reflect the trial characteristics more accurately and will be more useful to all stakeholders, especially the patients who participated in the trial and their healthcare providers.

Privacy Considerations in Medical Publications – A Rare Perspective

Individual privacy has come under increasing scrutiny since the passage of the General Data Protection Regulation. While patient privacy is crucial in all publications, the challenge is particularly severe in rare diseases where, by definition, there are very few patients, thereby increasing the risk of identification.
We searched PubMed and Google for articles on patient privacy in rare diseases. Search terms included “rare” OR “orphan” AND “disease” AND “privacy” and were restricted to those published in English. Results: Two authors (PP, MN) independently evaluated the results for relevance to the topic, and any disagreements were resolved through discussion with all authors. The selected documents were analyzed further. We identified 5 high-risk situations in which the privacy of patients with rare diseases can be breached.

What makes a rare disease community powerful?

Patients, advocates, and caregivers are the market-shapers in the world of rare disease. A powerful rare disease community can improve drug development and commercialization, influence regulatory decisions, shape treatment paradigms, and educate others about the disease. What’s more, survey data show that a significant majority of patients would provide feedback to drug developers, and would choose treatments from companies that are engaged with patients over those that are not.

Finding Patients and Building Rare Communities

Because we are immersed in rare diseases, both professionally and personally, our team understands the intricacies of rare. Patient finding and community building are cornerstones of rare disease problem solving as they directly benefit individuals living with a rare disease and the rare community at large, while enabling improvements in patients’ experience and care.