Rare Disease • Neuroscience • Prodrug Platform

Brain-targeted therapies for children with rare genetic epilepsies

Children with rare genetic epilepsies deserve better. PBCures is developing novel prodrug compounds that cross the blood-brain barrier to deliver proven therapeutics directly where they're needed — at doses young patients can tolerate. Driven by love for the families who can't wait.

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Solving a dose-limiting problem
that keeps children from treatment
Phenylbutyric acid (PBA) is a clinically proven chaperone therapy with demonstrated efficacy in rare genetic epilepsies affecting GABA-A receptors, including SLC6A1, STXBP1, and SYNGAP1. But current formulations require such high systemic doses that metabolic acidosis becomes dose-limiting — preventing children from reaching therapeutic brain levels. PBCures is building a different path.

The Problem

Current PBA therapies (Ravicti, Buphenyl) require massive systemic doses to achieve even modest brain exposure. At these doses, chronic metabolic acidosis forces dose reductions or discontinuation — robbing children of a therapy that works.

Our Approach

PBCures' prodrug compounds hijack the brain's own amino acid transporter (LAT1) to carry PBA across the blood-brain barrier. The result: therapeutic brain levels at a fraction of the systemic dose, eliminating the acidosis that limits current treatments.

Two lead compounds in preclinical development
Our compounds are designed as substrates for LAT1, using a 3-substituted phenylalanine scaffold to deliver PBA to the brain with high selectivity.
Compound Mechanism Target Indications Stage
PBC-001 (Ester) LAT1 transport → brain esterase cleavage → PBA release SLC6A1, STXBP1, SYNGAP1 Preclinical
PBC-002 (Amide) LAT1 transport → intact conjugate chaperone activity SLC6A1, STXBP1, SYNGAP1 Preclinical
A platform built on proven biology
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Clinical Foundation

PBA's chaperone activity in GABA-A receptor-linked epilepsies — including SLC6A1, STXBP1, and SYNGAP1 — is supported by published clinical data demonstrating seizure reduction and functional improvement in treated children.

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LAT1 Targeting

Large Neutral Amino Acid Transporter 1 is the brain's primary gateway for essential amino acids. Our compounds are designed as LAT1 substrates, leveraging decades of published structure-activity data.

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Dose Reduction

By delivering PBA directly to the brain via active transport, we aim to achieve therapeutic CNS levels at dramatically lower systemic doses — eliminating the metabolic acidosis that limits current treatment.

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Expanding Reach

Our ongoing research is identifying additional genetic epilepsy targets beyond our initial indications. The PBCures platform is designed to extend to every gene where PBA-mediated chaperoning can rescue protein function in the brain.

Driven by love for the families who can't wait

Ryan J. Delahanty, PhD

Co-Founder & COO

PhD in Human Genetics from Vanderbilt University. Operational and business lead for PBCures. Background in genomics, rare disease research, and translational science. Named co-inventor on two U.S. provisional patents covering the LAT1-targeted PBA prodrug platform.

Jingqiong (Katty) Kang, MD, PhD

Co-Founder & Chief Scientific Officer

Professor of Neurology and Pharmacology at Vanderbilt University Medical Center. Pioneer in the clinical application of PBA for genetic epilepsies. Her published work demonstrating PBA efficacy in SLC6A1 patients is the scientific foundation of PBCures' therapeutic thesis.

Let's talk
PBCures Therapeutics is currently raising a Friends & Family round and welcomes conversations with investors, collaborators, and patient advocates.
ryan@pbcures.com