Severity Scales and Outcome Measures
Our CDKL5 Centers of Excellence continue to lead the way in CDKL5 care and treatment. One obstacle to developing treatments is a lack of clearly defined measures that would allow comparison of CDKL5 symptoms and severity. For instance, cancer tumors are classed by Stage, which indicates molecular features and has been correlated with disease progression.
Our CDKL5 Centers of Excellence are working to develop a similar classification system to help measure CDKL5 severity. Our teams are developing severity scales and outcomes measures that will allow us to gauge response to treatments. They will also allow us to measure progression of the disorder within individuals.
Our Centers are also working with Telethon Kids Institute in Perth, Australia. Together, we are developing the infrastructure necessary for us to share data and conduct research studies as a team.
Pupil Size Biomarkers
The IFCR is funding the Tommaso Pizzorusso lab at the University of Florence for their work on pupillometry measures. In CDKL5 Disorder, there are striking differences in affected individuals’ pupils. This lab is developing a non-invasive tool to assess pupil size and reactivity. They seek to correlate their findings with visual and behavioral abnormalities in a CDKL5 mouse strain. Their goal is to determine the validity of using pupil alterations to gauge disease severity and detect early symptoms.
We are hopeful that this will allow for similar assessments of disease severity in people with CDKL5 Deficiency Disorder.
One obstacle in developing treatments is the lack of CDKL5 animal models. Therefore, we are funding the Leonor Cancela lab. The Cancela lab is developing a line of zebrafish with a CDKL5 Disorder phenotype, which means they express reflexes and other indicators that mimic CDKL5 disorder. The zebrafish will allow researchers to screen potential treatments.
Both the Pizzorusso and Cancela labs are winners of the IFCR’s 2018 Million Dollar Bike Race grant. Each lab has been awarded funding of $50,000.