A standard of care for the ultra-rare Marshall-Smith syndrome - developmental process and lessons learned

Abstract

Within the framework of the Dutch Chronic Disease Management Program, standards of care are being developed for common and for rare diseases in the Netherlands. A standard of care describes the desired norm quality of care for a specific chronic disease from the patients’ perspective. Here we describe a project in which we developed a standard of care for an ultra-rare disorder, Marshall- Smith syndrome (MSS), between 2011 and 2014.

There are only three patients known with MSS in the Netherlands and 45 patients known worldwide. There is no written documentation about the care for individuals who are affected by MSS, therefore professional caregivers are often faced with questions when advising treatments for specific symptoms of the disease. A standard of care provides information on possible symptom-specific treatments of MSS, the optimal organization of care and describes quality criteria for the care from the patients’ (parents’) perspective.

Here we describe the methods used for patient consultation and the lessons learned from the development process, and provide a short summary of the main topics of the standard. The English translation will be usable for patients with MSS worldwide. For those aiming to develop quality care standard for ultra-rare disorder(s), our approach might be useful to learn from or even to adopt.