CDKL5 Deficiency Disorder (CDD) is a rare brain disorder characterised by severe early-onset seizures in the first month of life, intellectual disability, motor and social impairment, and which mainly affects females. Currently, no therapies exist for CDD and only symptomatic pharmacological treatments are available. The use of animal models such as Cdkl5-null mice (mice that lack the CDKL5 gene) have shown to be an invaluable tool to gather insights into the molecular alterations underlining CDD. However, 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. Ulysses Neuroscience strive to address those unmet needs using a multidisciplinary and translational (research from animals to humans and vice versa) approach. We currently have an open line of research into CDD, where our team is engaged in the important task of identifying early biomarkers of disease in order to facilitate preventive treatment.
For more information on our Italian CDKL5 study, click here.
Fragile X Syndrome
Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, caused by heterogeneous mutations of the Fmr1 (Fragile X Messenger Ribonucleoprotein 1), which directs cells to produce the FMRP protein, fundamental for brain development and plasticity. As a result, patients experience a wide range of symptoms including developmental delays, learning disabilities, and social anxiety. The neurodevelopmental disorder FXS is linked to the full mutation (more than >200 CGG nucleotide repeat expansion), while the premutation (55-200 CGG repeat expansion) can lead to various conditions, including ovarian insufficiency in women, Fragile X Primary Ovarian insufficiency (FXPOI), and a Parkinson-like neurodegenerative disorder, Fragile X Tremor Ataxia Syndrome (FXTAS).
Despite the well-known aetiology, currently there is no cure for FXS and related conditions; biomarkers of disease progression are needed to accelerate clinical trials and discovery of new treatments. The Fmr1-knockout mouse model (mice lack FMRP protein) has been a valuable tool in helping to better explain the physiological role of FMR1 while also testing the efficacy of novel pharmacological compounds in alleviating some of the symptoms associated with the syndrome. Ulysses Neuroscience work both for and with FXS patients and Fragile X Premutation Carriers by carrying out patient-centric research with the goal of meeting the needs of patients via a translational approach.
Read more about our study involving Fragile X Premutation Carriers here.
Charcot-Marie-Tooth disease (CMT) comprises a group of progressive peripheral neuropathies which affect an estimated 2.6 million people worldwide. It is a spectrum of diseases which can be divided into demyelinating and axonal forms, along with other more complex forms which causes abnormalities and damage to the peripheral nervous system resulting in symptoms such as muscle pain, nerve pain, hand tremors, numbness, as well as curled fingers and toes. CMT diagnosis is dependent on neurophysiological and neurological examination of the patient and there are currently no validated biomarkers to track disease progress or any potential benefits derived from a novel therapy. Ulysses Neuroscience is currently carrying out clinical studies in an attempt to identify fluid-based biomarkers of CMT with the goal of advancing the drug discovery process towards the development of not only effective therapies, but also preventative treatments.
For more information on our Irish CMT study, click here.