PYC Therapeutics (ASX:PYC) has presented data supporting the progress made in its PYC002 program at the Phelan-McDermid Syndrome Global Congress to be held in Spain.
The company stated that the data presented demonstrate that PYC-002 restores the missing gene expression that causes Phelan-McDermid Syndrome (PMS) in brain cells derived from patients and rescues the functional deficits in these neurons that underlie the neurodevelopmental delays characteristic of the syndrome.
PMS, also known as 22q13 deletion syndrome, is a rare genetic disorder caused by a deletion or other structural abnormality of chromosome 22, specifically at the q13.3 region. It is characterised by a wide range of symptoms, including developmental delays, intellectual disability, speech and language impairments, and autism spectrum disorder.
PMS affects 1 in every 10,0005 children, and there are currently no treatment options available to patients.
PYC currently has three clinical-stage drug development programs and a fourth pre-clinical stage program directed towards PMS. PYC002 works by increasing the expression of SHANK3 from the remaining ‘good’ copy of the gene to compensate for the decreased expression caused by the mutation in the 'bad’ copy of the gene.
PYC-002 is currently progressing through the final pharmacokinetic and dose-range finding studies required before initiating formal Investigational New Drug-enabling studies. PYC said the program is currently expected to enter human trials next year.