We talk often about breaking new ground in rare disease but GaRDIAN represents a true watershed moment in patient empowerment.

GaRDIAN is a patient-led, patient-owned registry for neuronopathic Gaucher disease (nGD), a rare condition that has a significant impact on patients and caregivers, and where there is minimal natural history combined with small patient numbers and huge heterogeneity within the same genotype.

“We are delighted that our manuscript on GaRDIAN has been published,” said Tanya Collin-Histed, Chief Executive Officer of the International Gaucher Alliance (IGA), “and we believe GaRDIAN will be an important tool in the future for improving care and developing safer and more targeted medicines.”

A global neuronopathic gaucher disease registry (GaRDIAN): a patient-led initiative



Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. Implementing a systematic approach to the collection of real-world clinical and patient-relevant outcomes data in nGD presents an opportunity to fill critical knowledge gaps and ultimately help healthcare providers in the management of this patient population. This paper summarizes the development of a patient-initiated Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease (GARDIAN).

GaRDIAN was the brainchild of the International Gaucher Alliance and Elin Haf Davies of Aparito,” says Tanya, “an ally in our community for over two decades. We hope that by sharing our experience of how we developed GaRDIAN and the disease-specific patient-reported and observer-reported outcomes for nGD we will validate in the registry, and other patient communities will be encouraged to lead the way in their disease areas.”

GaRDIAN intends to bridge the many gaps in the understanding of nGD and align with regulatory frameworks on real-world data needs.

Access the paper