“Rare” diseases are something of a misnomer: about 30 million Americans, half of them children, have a rare disease – and 90% have no approved treatments at all. The need is immense. But the challenges for researchers are also similarly large. Patient populations are small and geographically dispersed, the diseases are heterogeneous, and the endpoints are poor – often repurposed from other diseases. 

Last week at the WORLD (We’re Organizing Research on Lysosomal Diseases) Symposium in San Diego, several Koneksans (Robert Ellis, Ph.D., Pooja Nandi, and Caitlin Curnyn, MPH) presented with colleagues (Biliana Rotse, Ph.D., Paul Howard, PhD, and Jennifer Hiros, MS, PMP) from Amicus Therapeutics Inc. on our joint research in Fabry disease, a rare genetic disorder that can cause serious cardiac conditions.

The WORLDSymposium is an interdisciplinary forum for experts – patients, clinicians, researchers, companies – to explore and discuss the latest on lysosomal diseases. 

The team presented a poster on their development of a composite measurement that uses both new and established digital measures. The concept was developed based upon a targeted literature search and patients and clinical advisory boards, and follows scientific best practices and regulatory guidance. The composite measurement concept includes signs and symptoms that are important to patients living with Fabry disease, and is aimed at capturing cardiac disease progression.

The team was able to engage with a variety of stakeholders on our work addressing this important need, and to increase the small, but growing, presence of digital experts at the annual conference. 

Reach out to Koneksa if your work in rare diseases could benefit from work like this!