Our path to treatment

Establish AGO patient registry & natural history study

An understanding of Argonaute syndromes (AGO1 & AGO2 genes) and how it develops over time are critical to finding treatments that matter to patients and will be reimbursed

1. Understand known mutations and genotype-phenotype links

2. Understand burden of disease

3. Perform a natural history study to gather medical information over time

Establish AGO models

AGO1/2 models serve as foundation to study disease mechanisms, test treatments in preclinical studies and find a cure

1. Generate patient-derived fibroblast cell lines and induced pluripotent stem cells (iPSC)

2. Generate animal models (zebrafish, worm, mouse)

Understand disease mechanism

Determining the exact cause of disease will guide development of treatments

1. Perform molecular, cellular and behavioral analyses of AGO1 and AGO2 models

2. Identify robust biological markers to determine severity and progression of disease to measure response to therapy

Discover a therapeutic approach

Test therapeutics on AGO1/2 models to identify promising options

1. Develop assay to measure therapeutic effect

2. Test different therapeutic strategies to shut down or increase activity of AGO1/2: repurpose already approved drugs, develop splicing antisense oligonucleotides (ASOs) and gene replacement therapy

3. Further test & optimize lead therapy

Pre-clinical studies of candidate therapy

Before trials in humans, our therapeutics are further tested in the lab to demonstrate efficacy and safety

1. Establish proof of concept in AGO1/2 models (efficacy) 

2. File for Rare Pediatric Disease and Orphan Drug designations

3. GMP manufacturing and safety tox in healthy animal models (toxicity, dosing) 

4. Submit application to begin human trials

Clinically test therapy in humans

Human clinical trials are the ultimate test of safety and efficacy before a drug is approved

1. Inform design of trial with patient knowledge from registry, natural histories and community

2. Complete the different stages of clinical trials (fewer phases for rare diseases or if a drug is repurposed)

3. Submit application to sell therapy

Note: patients in a trial will have access to experimental therapeutics in this phase

An approved treatment or a cure

Heureka!