CDKL5 Italian Study

CDKL5 Deficiency Disorder (CDD) is a rare brain disorder characterised by severe early-onset seizures in the first month of life, intellectual disability, and motor and social impairments. Currently, no therapies exist for CDD and only symptomatic pharmacological treatments are available. Therefore, there is an urgent need for minimally invasive (i.e. peripheral fluid analysis e.g. blood plasma) biomarkers of translational value to monitor disease progression. 

The aim of this research study is to investigate if observed changes in plasma-based proteins related to brain development significantly differ in the plasma of CDD patients compared with controls. The presence of these changes may in turn indicate abnormal processes taking place which contribute to disease progression, such as a reduction in synaptic plasticity, meaning neurons may have a reduced ability to adapt and strengthen their connections over time. Plasma samples will be collected via blood withdrawal at the Carlo Besta Neurological Institute in Milan and Borgo Trento Hospital in Verona.

This study will build on the findings from our previous study investigating the changes in plasma-based proteins related to brain development in the plasma of CDD patients from Ireland, Italy and the US, allowing for an increased study sample size. The results from this initial study showed that acetylated alpha-tubulin is overexpressed in the plasma of CDD patients, together with alterations in inflammatory markers, suggesting a reduction in synaptic plasticity. Acetylated alpha-tubulin is formed when the alpha-tubulin protein, a key structural component of microtubules, undergoes a chemical modification called acetylation, which can impact the dynamic instability of microtubules. Microtubules support the structure and functions of cells, such as neurons, by alternating between growth and shrinkage, a process known as dynamic instability. 

The sample collection for this study is being carried out through our first foreign branch, Ulysses Neuroscience Italia. In Italy, we have found an environment of highly motivated clinicians, patients and families, with the presence of a number of “centres of excellence” where we have established important connections including the Carlo Besta Neurological Institute in Milan and Borgo Trento Hospital in Verona. Adding Italy as a study site allows Ulysses Neuroscience to expand our clinical research capabilities by adding the Italian diseased population to our studies and by creating a collaboration hub for patients, carers, and healthcare specialists to share knowledge in service of meaningful research development.

Ulysses Neuroscience is carrying out this clinical study investigating fluid-based early biomarkers of CDD with the goal of advancing the drug discovery process towards the development of effective therapies.

If you are interested, you can get in touch at the following email address: