Transparency in rare disease research: A patient’s call to action

Recently, a position statement was published in the Orphanet Journal of Rare Diseases by a researcher living with a rare disease, advocating for more transparency in rare disease research. In this context, “nontransparent” researcher refers to research which is not subject to sufficient scrutiny. This makes it easier to miss or overlook flaws in research, leading to delays for drug development and subsequent negative consequences for patients. In this article, the specific example of animal model used in the rare disorder Bietti crystalline dystrophy is used to illustrate the complications that may arise as a result of non-transparency.

Since rare disease research is so scarce, it is not always subject to the same scrutiny as research on more common diseases. This makes nontransparent science a particular challenge. One potential solution is to promote the use of patient-derived preclinical alternatives to animal models. These human cell-based models provide a better approximation of human physiology and can yield findings that are more clinically relevant.

Overall, introducing more transparent practices into rare disease research can benefit patients by accelerating the development and approval of new treatments, while also improving resource efficiency in the research process. The author calls specifically on rare disease patients to take a more active role in promoting transparent science and advancing meaningful, transformative research.

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