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From Bench to Bedside: A Multi-Path Approach to STXBP1 Therapeutics

At Rafa’s Moonshot, we’re developing a diverse pipeline of therapies that target the root cause at the molecular level. From AI-driven discovery to patient-derived cells and early trials, each program tackles STXBP1 dysfunction from a unique angle, offering hope to a wide range of patients.

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What We’re Building

We’re developing therapies that target the root cause of STXBP1-related disorders. Each program addresses a different biological mechanism, using tools like AI, model systems, and patient cells to move from discovery to clinical testing.

Rafa’s Moonshot Therapeutic Pipeline

We have launched unique therapeutic plans in line with our strategic objectives. Raphael has already begun receiving the first repurposed drug we identified, and we are developing our distinctive therapeutic pipeline in collaboration with the STXBP1 community.

Rafa001: Drug Repurposing (Beta-NMN)

Using computational screening of approved drugs, we identified Beta-NMN and began treatment just six months after Raphael’s diagnosis. It showed positive results in C. elegans, patient-derived neurons, and a mouse model, supporting its potential as a fast-tracked therapeutic.

Rafa002: ASO Development

This program uses antisense oligonucleotides (ASOs) to boost production of healthy STXBP1 protein from the functional gene copy. It’s a gene-specific approach designed to counteract haploinsufficiency, with promising early data from patient-derived neurons.

Rafa003: Small Molecule Correctors

Our small molecule program uses AI-driven modeling and custom biological assays to identify compounds that correct the misfolded STXBP1 protein. Designed to target missense mutations like R292C, this approach helps validate promising candidates for therapeutic development.

Why a Multi-Program Pipeline?

STXBP1 mutations vary widely—from protein-destabilizing variants like Raphael’s mutation to truncating or splicing mutations. No single treatment is likely to help everyone. That’s why we pursue multiple strategies in parallel:

1. Mutation-targeted: Folding correctors for destabilized proteins


2. Broad-impact: Metabolic enhancers that work across variants


3. Gene-level: ASOs to increase expression from functional alleles

Partnerships Powering Progress

We collaborate with leading researchers and scientists from top universities, pharmaceutical companies, and biotech firms worldwide.

“Our therapeutic strategy is rooted in multimodality—because when you’re fighting a complex disease, you need more shots on goal. The goal isn’t just progress, it’s maximum impact for every child.”

Sagi Gidali

Co-Founder and CEO of Rafa’s Moonshot

Want to Collaborate?

We actively partner with researchers, clinicians, foundations, and biotech teams working on rare diseases, CNS conditions, and neurogenetic disorders. Whether you’re exploring shared mechanisms, innovative models, or potential therapies, we’re always open to meaningful collaboration.

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