Dr. Tim Guillams
Co-Founder and CEO, Healx
Drug development company utilises AI discovery engine to find treatments for rare disease, celebrating milestone phase 2 clinical trial for potential neurofibromatosis type one (NF1) treatment.
Innovation is urgently needed for conditions with limited or no treatment options. A breakthrough in this space comes from Healx, a Cambridge-based biotech pioneering AI-driven drug discovery, which has recently dosed the first patient in its Phase 2 trial for a potential first-in-class therapy for neurofibromatosis type 1 (NF1).
A critical unmet need in NF1
NF1 is a rare genetic disorder affecting 1 in 2,500 people worldwide, causing tumours to grow along nerves. These tumours can lead to pain, disfigurement and severe complications, often manifesting in childhood. Despite the condition’s impact, treatment options remain extremely limited. Today, patients must often choose between invasive surgeries or existing therapies that may only work for some patients and come with significant side effects.
The trial offers a completely new approach — one that prioritises both safety and effectiveness. By targeting the root cause of NF1 nerve tumours, this drug has the potential to bring real change to a community that has long faced difficult trade-offs.
With 95% of rare diseases still lacking
approved treatments, the need for
innovation has never been greater.
From AI discovery to clinical trial
The therapy was discovered using Healx’s proprietary AI platform, which scans vast biomedical datasets to uncover hidden connections between diseases and potential treatments. Unlike traditional drug discovery, which can take decades and billions in investment, AI can accelerate this process significantly — bringing new medicines to patients faster.
By leveraging AI, Healx identified the therapy as a promising candidate with a novel mechanism of action — something that no other approved NF1 drug currently offers. The therapy is designed to target NF1 tumours in a fundamentally different way, with the goal of reducing tumour growth while avoiding the significant side effects of existing options. Now, this AI-driven discovery is moving into the INSPIRE-NF1 Phase 2 trial, enrolling adult patients in the US. If successful, it could not only provide a safe and effective treatment option but also pave the way toward a future where patients no longer have to choose between treatment effectiveness and quality of life.
This milestone is the result of relentless dedication from Healx’s team, the NF1 patient community, and partners such as the Children’s Tumor Foundation and the NF Clinical Trials Consortium. Their collaboration ensures that scientific progress translates into meaningful impact for those who need it most.
A mission to leave no patient behind
Healx was founded with a clear mission: no rare disease patient should be left behind. With 95% of rare diseases still lacking approved treatments, the need for innovation has never been greater.
By combining AI, patient insights, and expert-driven drug development, Healx is helping to redefine how we tackle some of the world’s most challenging diseases. This therapy is just one example of how technology and collaboration can accelerate breakthroughs where they are needed most.
This stands as a beacon of progress and hope; not just for NF1 patients but for the entire rare disease community. With each breakthrough, we move closer to a world where every patient has access to the treatment they deserve.
