Our Therapeutic Approach
A small molecule with the potential to become the first disease-modifying therapy for GM1 and GM2 gangliosidosis
In recent years, researchers discovered several enzymes that may serve as potential targets for the treatment of neurodegenerative lysosomal storage disorders.
Our lead candidate, referred to as AZ-3102, belongs to the drug class of small molecules. With their ability to pass through cell membranes and the blood-brain barrier, these small molecules offer the opportunity to reach intracellular targets, also in the brain and spinal cord (the so-called central nervous system).
In our case, AZ-3102 is designed to reach the central nervous system and to change the metabolism of certain fats or lipids. Through this mechanism, AZ-3102 has the potential to reduce the harmful accumulation of “waste” lipids and to reduce the impact of the impaired lysosome. Our initial goal with our lead candidate AZ-3102 is to develop a disease-modifying therapy for GM1 and GM2 gangliosidosis to improve the lives of patients AZ-3102 can be swallowed in a tablet form and therefore offers the possibility of convenient administration and treatment at home, which would significantly preserve patients’ and their families’ quality of life. AZ-3102 has the potential to provide the first disease-modifying therapy that that can be effective regardless of the genetic type of GM1 and GM2 gangliosidosis that is afflicting the patient.
Our Phase 1 first-in-human study with AZ-3102
Our Phase 1 study in healthy volunteers assessed the safety and tolerability of AZ-3102 with specific measurements on drug levels and biomarkers in plasma and cerebrospinal fluid (CSF). The study design serves the future development of AZ-3102 in neurological lysosomal storage disorders, including GM1 and GM2 gangliosidosis.
Our Naturel History study: Prospective longitudinal study of neurological disease trajectory in children living with late-infantile or juvenile onset of GM1 or GM2 gangliosidoses, PRONTO
To gain more insight in the natural development of the disease, we designed PRONTO (PROspective Neurological Disease TrajectOry Study), a prospective Natural History study.
By enrolling children with late infantile and juvenile onset of GM1 and GM2 gangliosidosis, we aim to understand how the disease progresses, with a focus on how it affects neurological signs and symptoms, and to identify if some patients have different traits that could explain and predict how their disease will progress. In this way we build an external control dataset and develop a model of disease progression. This study will support the future development of a clinical trial investigating the potential of our lead therapeutic candidate, AZ-3102, in this patient group.
PRONTO is designed as a multinational study in up to 6 countries, with at least 75 participants between the age of 2 to 20 years with neurological disease onset after their1st birthday. Enrolment was initiated in 2021, with follow-ups continuing until 2025.
By joining this study, you can contribute to collect important data that will be highly valuable for the development of future treatments. If you want to learn more about PRONTO and how to enrol, please contact you treating physician or click here for the clinical trial information: clinicaltrials.gov
For any questions and specific information on our PRONTO study, please send an email to firstname.lastname@example.org.