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.
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.