AI-powered, patient-inspired treatments for rare diseases: Healx

It all started when Dr. Tim Guilliams and Dr. David Brown met a man named Nick Sireau in 2014. Nick had set up a patient group to help find treatments for an extremely rare genetic disorder that affected his sons. For a decade he worked tirelessly, but the drug discovery process was slow and very expensive - a challenge facing nearly all patient groups today. Tim and Dave had long been advocating drug redevelopment - the use of existing drugs for new therapeutic purposes - when used in combination with artificial intelligence. They knew that this inexpensive and accelerated approach could help others like Nick and the rare disease community overcome the challenges they were facing and find treatments faster. Nick became their inspiration – he was the living story of the therapeutic need their approach could meet.

Traditional drug discovery is slow, expensive and has a 10% success rate. This has led to a culture of filling pipelines with blockbuster drugs, targeted to large patient populations, in order to offset the cost of failures. By using AI and other frontier technologies to redevelop, combine and enhance known compounds, Healx is building a pipeline of new and effective therapies. Analyzing a disease involves looking through a lot of literature, like scientific research, patient registry, natural history and disease biology data. Artificial intelligence reduces how long this process takes by rapidly scanning lots of pieces of information and data, and pulling out interesting connections between disease symptoms and possible treatments. These connections are then reviewed by Healx’s expert team of pharmacologists who seek to identify which drugs could treat a disease most effectively.

The drug discovery journey

Patients have a unique expertise regarding their condition and treatment: only they know what they really experience. Healx will often work closely with key patient organizations within the disease area to learn about their conditions, helping us get a picture of the most critical unmet need, key drug development resources and research groups working in the condition. They also often play a key role in gathering and contributing to this data, and participation from their community (patients and caregivers) are vital to this work. Once the drug substance is selected, the molecule is characterized for the start of drug product development experiments as part of Chemistry, Manufacturing and Controls (CMC) activities. A clear understanding of the patients’ needs and drug physicochemical properties is critical in driving the development of a treatment that is fit-for-purpose. For example, if the patient population often struggles with swallowing, then Healx may consider developing a patch or syrup rather than a tablet or capsule to improve patient experience.

Measuring the efficacy of the treatment

Throughout the drug product development journey, the manufacturing processes are optimized, analytical methods are validated to monitor the product quality and stability, and the behavior of the product in various stress conditions is established. This is so Healx can control critical parameters during manufacturing to ensure that the drug product being made is stable and of high quality. It needs to be made in a reproducible and consistent manner, and meet safety, quality and consistency criteria whether it is batch 1 or batch 1001. It can be difficult to effectively match rare disease patients to trial opportunities due to their relatively low numbers and sparse distribution around the world (trials are often limited to only a handful of locations). Novel methods like decentralized trials are helping to overcome this challenge.

Many rare diseases lack validated trial outcome measures that can be used to reliably demonstrate meaningful benefit of the potential new treatment in patients. In addition to demonstrating clinical effectiveness (e.g. survival, physiological improvements), the potential treatment should also demonstrate benefit as experienced by patients which are evaluated through quality of life (QoL) and patient-reported outcome (PRO) measures.

Meet the leader behind the success of Healx

Dr. Tim Guilliams, Co-founder and CEO of Healx is a tech entrepreneur from the Cambridge Cluster, passionate about using big data and AI to accelerate treatments for rare diseases. He is the Co-Founder and Chief Executive of Healx, the AI-powered, patient-inspired tech company, accelerating the discovery and development of rare disease treatments at scale. In 2019, Healx raised $56 million in Series B funding and was listed in Tech Nation’s Future Fifty cohort. In 2020, the company won 5 prizes at the CogX Awards including Grand Jury Prize and Best AI Product and was listed in CB Insights Digital Health 150. As CEO of Healx, Tim has been listed in The Sunday Times Maserati 100 list of entrepreneurs in 2019, was named as ‘One to watch’ in The Telegraph’s Top 50 Most Ambitious Business Leaders in 2020, and was selected as member of the Forbes Technology Council in 2022.

Tim is also the Co-Founder and Trustee of the Cambridge Rare Disease Network (CRDN). Prior to Healx and CRDN, he obtained his PhD at the University of Cambridge in the field of Biophysics and Neuroscience, developing nanobody technology for Parkinson's disease. Before moving to Cambridge UK, Tim obtained a MEng in Bio- and Chemical-Engineering from the University of Brussels.

“We believe that effective treatments for rare diseases cannot be discovered without the help of patients, their careers, or representatives from patient groups.”