Our Path to a Cure

The End Goal

We are focused on one goal: funding and accelerating the development of the first ever gene therapy treatment for SCN2A-Related Disorders.

Rather than managing symptoms, gene therapy offers the possibility of correcting the underlying genetic cause of the condition.

What is Gene Therapy?

Gene therapy uses genes as medicine.

Every cell in our body carries a set of instructions (our DNA) which tells the body how to grow, develop and function. These instructions are organised into thousands of individual genes, each responsible for producing a specific protein that the body needs.

When a gene contains an error (known as a mutation), the amount of protein produced may be reduced or may not function properly. In genetic conditions like SCN2A, this single change can significantly affect brain development and communication.

Gene therapy aims to address this problem by helping cells produce the right amount of protein. In the case of SCN2A, emerging approaches such as CRISPR activation (CRISPRa) work by increasing activity of the healthy gene copy already present in the body, helping restore more typical levels of the essential protein.

Loss-of-Function and Gene Upregulation

Some SCN2A variants are known as loss-of-function (LOF). This means one copy of the gene is not working as expected, resulting in reduced production of the protein needed for normal brain function.

One therapeutic strategy for LOF conditions is gene upregulation. Rather than adding a new gene or permanently changing DNA, this approach increases activity of the healthy gene copy already present in the body.

Technologies such as CRISPR activation (CRISPRa) are designed to help cells produce more of the essential protein by boosting the gene’s natural expression, with the aim of restoring more typical neurological function.

How the Therapy Is Delivered to the Brain

A key challenge in gene therapy is safely delivering therapeutic instructions into the right cells inside the body.

To do this, researchers use specially engineered viral vectors. Viruses naturally evolved to deliver genetic material into cells. Scientists can remove the parts of the virus that cause disease and repurpose it as a safe delivery vehicle.

In this approach, the viral vector carries CRISPR activation (CRISPRa) components designed to increase activity of the healthy SCN2A gene copy already present in brain cells.

One of the most widely used and well-studied vectors is derived from Adeno-Associated Virus (AAV). AAV does not cause disease in humans and has been used safely in many clinical trials and approved gene therapies.

For neurological conditions, a specific type called AAV9 is especially promising because it can cross the blood brain barrier and reach cells throughout the brain and central nervous system.

What This Means for SCN2A

For children like Jack with loss-of-function SCN2A variants, gene therapy aims to increase activity of the working gene copy in brain cells.

By helping restore more typical levels of the Nav1.2 protein, this approach seeks to support healthier brain signalling and neurological function.

The intended outcomes of this strategy include:

  • Restoring critical brain signalling pathways that underpin learning, movement, and communication

  • Supporting developmental processes impacted early in life

  • Reducing the severity of neurological symptoms, including seizure activity

  • Opening the possibility for children to gain skills that were previously difficult to achieve

The goal is to intervene early enough to change the course of the condition, rather than only managing symptoms.

Project Overview

  • Our project is focused on developing a gene therapy for loss-of-function (LOF) SCN2A using a gene upregulation approach known as CRISPR activation (CRISPRa). Rather than adding a new gene or permanently editing DNA, this strategy increases activity of the healthy SCN2A gene copy already present in brain cells, helping restore production of the essential Nav1.2 protein.

    CRISPRa uses an engineered regulatory system designed to precisely increase gene expression within cells. The therapy is delivered using an AAV9 viral vector, a widely studied and commonly used delivery technology in neurological gene therapy. AAV9 is particularly well suited for brain conditions because it can cross the blood brain barrier and reach cells throughout the central nervous system.

  • The development pathway for this gene therapy is expected to take approximately four years, with an estimated cost of ~$5 million, covering pre-clinical research, translational development, manufacturing readiness, and preparation for first-in-human studies. Our goal is for the first in-human dose to be delivered by 2030.

    By comparison, the lifetime cost of care for a person with high support needs, like Jack, is estimated to exceed $7 million - not accounting for the emotional, physical, and social impact on families. Investing in a disease-modifying therapy has the potential not only to change lives, but to significantly reduce long-term care needs and costs.

  • This program is being advanced with input from world leading experts in gene therapy, neuroscience and translational medicine who specialise in developing genetic therapies for neurological conditions.

    These collaborators bring deep expertise in AAV delivery systems, gene regulation technologies, and the complex process of progressing therapies from laboratory research toward human clinical trials.

    Our focus is to support a rigorous, scientifically grounded pathway that maximises the likelihood of delivering a meaningful treatment option for the SCN2A community.

Donate to the Project

All funds raised support our active gene therapy project and the work required to develop the first ever gene therapy treatment for SCN2A.

Not someday - but urgently.

Every contribution counts