MAN1B1

Rare disease public benefit company Perlara is collaborating with Vivan Therapeutics to identify new medicines for rare genetic diseases. The collaboration will see Perlara referring patients with specific rare diseases to Vivan Therapeutics in order to potentially find new treatments. Vivan’s Personal Discovery Process (PDP) technology is used to develop in vivo models of personalised fruit flies, which they call ‘avatars’. The company then uses robotics to screen thousands of FDA approved drugs, along with other drug libraries to identify potential therapeutics. Vivan Therapeutics’ chief scientific officer Dr Nahuel Villegas said: "Our fruit fly in vivo models are specifically designed to identify novel and unlikely therapies for diseases with clear genetic components. In this exciting collaboration with Perlara we will employ our unique platform to run massive drug screenings to define therapeutic options for diseases with no current standard of care treatments." The first two diseases to be modelled are MAN1B1-CDG (congenital disorder of glycosylation) and ECHS1 deficiency, both of which have no treatments. The ECHS1 gene and MAN1B1 gene are very well conserved in fruit flies. Individuals with MAN1B1-CDG have two deficient copies of the MAN1B1 gene. Individuals with MAN1B1-CDG typically develop signs and symptoms of the condition during infancy, including a broad array of phenotypic abnormalities such as developmental disability, decreased muscle tone (hypotonia), delayed motor skills, and behavioural problems among others. ECHS1 deficiency is a rare congenital metabolic disorder caused by biallelic mutations in the ECHS1 gene. Individuals with this mitochondrial condition typically have signs and symptoms of developmental delay, dystonia, seizures, and brain abnormalities. Ethan Perlstein, CEO of Perlara said: "We're excited to be working with Vivan on developing fly avatars of monogenic inborn errors of metabolism for rapid turnaround personalized drug repurposing. Flies are at the sweet spot of disease model complexity and clinical translatability." Laura Towart, CEO of Vivan Therapeutics added: "This collaboration is our first outside of oncology and will enable us to utilise our platform technology to potentially identify therapeutics for diseases for which there are no treatments. We are looking forward to embarking on this important mission with Perlara and the families."