PYC Therapeutics advances groundbreaking treatment for Phelan-McDermid syndrome

PYC Therapeutics (ASX: PYC) has made a breakthrough with its main drug candidate for the potential treatment of neurodevelopmental disorder Phelan-McDermid Syndrome (PMS).

New studies by PYC have found it can restore the deficient protein that causes PMS in neurons, the brain cells in which the disorder occurs.

The neurons in which these results have been achieved were derived from a patient with PMS—demonstrating the utility of PYC’s approach in PMS prior to the initiation of human trials.

Clear line-of-sight

“This is a big step forward in this body of work—this is the data that the clinicians have been asking us to generate before we push into the clinic,” said PYC’s chief executive officer Dr Rohan Hockings.

“Importantly, we have been able to generate the data with two different chemistries of ribonucleic acid (RNA) therapy, one of which has already demonstrated clinical benefit in patients with disorders occurring in neurons.”

“This gives us a clear line-of-sight into first-in-human studies, where we believe an RNA therapy offers the greatest potential benefit to PMS patients and their families.”

Congenital condition

A genetic disorder impacting one in every 10,000 people, PMS affects brain development and function and results in a range of intellectual and physical disabilities.

It is a congenital condition (one that is present at birth) that can affect people of all genders.

There are currently no treatments available for patients with PMS that address the underlying cause of the disorder.

PYC is working on a next-generation RNA drug that has proven in animal model evaluation to have the ability to engage its target in different regions of the brain relevant to PMS.

ADOA trials

PYC has a number of other drug development programs underway, including its first-in-class drug candidate PYC-001 for the blinding eye disease called Autosomal Dominant Optic Atrophy (ADOA).

The company’s preparations for a Phase 1 clinical trial of PYC-001 are set to commence later this year.

The development benefitted recently from the receipt of Orphan Drug Designation (ODD) from the US Food and Drug Administration for the drug candidate.

ODD is given to drug candidates designed to treat rare diseases which provides a number of benefits including tax credits for qualified clinical trials, exemptions from some regulatory fees and the potential for seven years of market exclusivity post-approval.

Irreversible disease

ADOA is a progressive and irreversible blinding eye disease affecting approximately one in every 35,000 people, representing a market size of around $2 billion per annum.

It is caused by a mutation in one copy of the OPA1 gene and, in around 85% of patients, this mutation leads to insufficient levels of OPA1 gene expression to support normal cellular function in the retinal ganglion cells of the eye.

The abnormal function of the affected cells due to the OPA1 deficiency causes cell stress and ultimately cell death.