They need a breakthrough, so their families are building one. A gene therapy project targets rare SLOS disorder

SLOS is a severe genetic disorder that disrupts the body’s ability to produce cholesterol, a molecule essential for brain development and cellular function. The consequences are devastating: profound neurological impairment, feeding difficulties, developmental delays, and lifelong disability. There is currently no approved cure.

Faced with this reality, a group of parents - united under the Purestone Foundation - has taken an extraordinary step. Rather than waiting for the pharmaceutical industry to act, they have initiated a project to develop a gene therapy from the ground up.

Their partner in this effort is Prof. Leszek Lisowski, a Polish scientist working at the Children’s Medical Research Institute (CMRI) in Sydney, Australia, with expertise in gene delivery technologies. The proposed therapy is based on an adeno-associated viral (AAV) vector designed to deliver a functional copy of the defective gene directly into patients’ cells, potentially restoring endogenous cholesterol synthesis.

Early-stage laboratory work is already underway, and at least one prototype vector has reportedly been developed—an encouraging signal in a field where technical feasibility is often the first major hurdle. However, translating this into a clinical-grade therapy requires substantial funding.

The current fundraising goal—approximately PLN 2 million—covers the development and production of a research-grade vector necessary to advance into preclinical and early clinical evaluation. The total projected cost of the program, including initial trials in a small patient cohort, is estimated at around €5 million.

This initiative reflects a broader shift within the rare disease ecosystem: patient-led innovation. As traditional drug development pathways often overlook ultra-rare conditions due to limited commercial viability, affected communities are increasingly organizing, funding, and even co-developing therapeutic strategies.

Still, the risks are significant. Gene therapy development is complex, highly regulated, and inherently uncertain. There is no guarantee of clinical success. Yet for these families, inaction is not an option.

The project has been opened to public support through an online crowdfunding campaign, inviting individuals and organizations to contribute to what could become a first-in-class therapy for SLOS.

For industry observers, this effort underscores both the limitations of current market-driven R&D models and the growing role of grassroots initiatives in shaping the future of precision medicine.

For the families involved, the goal is far simpler: to give their children a chance at life.

Support the project: click here.

In rare diseases, breakthroughs don’t always come from the system. Sometimes, they begin with those who refuse to wait.