Disease-Specific

INFORM RARE is designing and enhancing patient registries, core outcome sets, and clinical trials for three rare genetic diseases: SMA, PKU, and MPS.

 

INFORM SMA

Learn about our research projects related to spinal muscular atrophy here.

INFORM PKU

Explore our research projects related to phenylketonuria here.

INFORM MPS

Discover our research projects related to mucopolysaccharidosis here.