International patient group harnesses social media to help inform rare disease research: use of a low carbohydrate ketogenic diet in McArdle disease

PURPOSE OF REVIEW: To highlight the benefits of a partnership between patient advocacy organizations (PAO) and clinical researchers in order to clinically study the prior anecdotal patient experience of utilizing a low-carbohydrate ketogenic diet (LCKD) to manage McArdle disease.

RECENT FINDINGS: The bedside-to-bench and back again method of translational research is well suited to explore anecdotal patient experiences, particularly for rare diseases. In McArdle disease, patients have explored the use of a LCKD to address the ubiquitous occurrence of physical activity intolerance and minimize associated adverse events. The International Association for Muscle Glycogen Storage Disease harnessed the power of social media to better understand this patient-centric finding and has subsequently partnered with clinical researchers to convey patient-centered priorities for research. From this partnership, a series of clinical and survey studies have been initiated.

SUMMARY: Collaboration between PAOs and clinical researchers has the potential to foster patient empowerment, advance anecdotal experiences into scientific hypotheses, and ultimately guide the development of management guidelines that reflect the patient perspective.