As biotechnology continues to advance, gene silencing emerges as a promising treatment for rare neurological diseases, offering hope for patients with conditions like H-ABC (Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum). With clinical trials expected in the near future, targeted therapies may revolutionize the treatment landscape for previously untreatable diseases.
Founded in 2021, SynaptixBio is spearheading efforts to develop therapies for TUBB4A leukodystrophies, a group of rare and debilitating neurological disorders. Co-founder and CEO Dr. Dan Williams, whose career spans over two decades in biochemistry and drug development, is leading the charge to bring innovative treatments from the lab to clinical trials.
Dr. Dan Williams: A Career Focused on Innovation
Dr. Williams’ extensive career in biotech began after earning a degree in biochemistry and physiology, followed by a PhD from the University of Dundee. Over the years, he held various roles, including leading research teams and overseeing clinical trials. “After university, I worked in multiple research and leadership positions, developing a deep understanding of drug manufacturing and clinical development,” Dr. Williams recalls. His experiences at Adaptimmune and Meatable laid the groundwork for his next venture—SynaptixBio, a company committed to advancing therapies for rare neurological diseases.
Looking Toward 2025: Advancing Clinical Trials
Since its founding, SynaptixBio has made notable strides in its research efforts. In 2023, the company raised £11 million in private investment, alongside £2.5 million in grants from Innovate UK. Dr. Williams emphasizes that the company’s focus is squarely on bringing its candidate drug for H-ABC to clinical trials by 2025. “If we can achieve this milestone, it will be a game-changer for both the company and the families affected by this devastating condition,” he says.
H-ABC, a rare and severe disorder, causes the loss of myelin—the protective coating around nerve fibers. This breakdown disrupts communication between nerve cells, leading to challenges in movement, speech, coordination, and even vision and cognition. SynaptixBio’s development of a potential treatment for H-ABC is poised to make a significant impact on the lives of affected individuals.
Rare Disease Biotech: A Rapidly Growing Sector
The rare disease biotechnology sector is witnessing rapid expansion. While individual rare diseases may affect a small number of individuals, collectively, these conditions impact approximately 350 to 400 million people globally. The market for antisense oligonucleotides (ASOs)—a key technology in gene silencing—was valued at $4.4 billion in 2023 and is projected to grow at a compound annual growth rate (CAGR) of 18 percent, reaching $19.7 billion by 2032.
Several factors are fueling this growth, including the increasing prevalence of neurodegenerative and genetic disorders, advancements in gene expression and delivery technologies, regulatory incentives for antisense therapeutics, and a growing demand for personalized medicine.
Gene Silencing: A New Frontier in Treatment
SynaptixBio’s approach centers around gene silencing, a cutting-edge technique that prevents the expression of mutated genes, effectively halting the production of harmful proteins. Through the use of ASOs—short strands of synthetic nucleotides—this technology targets the mutated RNA, preventing the formation of toxic proteins that lead to disease progression.
Dr. Williams explains, “H-ABC, like many rare diseases, is caused by a mutation in a single gene—TUBB4A. We are developing an ASO that specifically targets this mutation, preventing the formation of toxic proteins.” Gene silencing offers the advantage of fewer side effects compared to gene editing, which can lead to unintended genetic alterations.
ASOs are already undergoing trials for Alzheimer’s disease at University College London Hospital, targeting the production of Tau proteins. Similar gene-silencing approaches are also being investigated for Parkinson’s and Motor Neuron Disease.
Building Strong Partnerships with the Patient Community
A key aspect of SynaptixBio’s strategy is its collaboration with the H-ABC Foundation. This partnership allows the company to stay closely connected with the patient community, ensuring that their research aligns with the real-world needs of patients and families affected by rare diseases.
“We are proud to work closely with the H-ABC Foundation,” says Dr. Williams. “The foundation helps track patient locations, disease progression, and symptoms, which will be invaluable when preparing for clinical trials.”
The Challenges of Living with H-ABC
H-ABC, the most severe form of TUBB4A leukodystrophy, presents numerous challenges to those affected. The disease impairs movement, speech, vision, and intellectual development, severely impacting daily life. “One of the greatest hurdles for rare disease patients is receiving an accurate diagnosis,” Dr. Williams notes. “Symptoms often overlap with more common conditions, making it difficult for primary care physicians to identify these rare disorders.”
The diagnostic journey for rare disease patients can be lengthy and uncertain, further compounded by the fact that 90 percent of rare diseases currently have no known cure. “Our mission is simply to help those patients who have no options,” Dr. Williams adds.
A New Era for Rare Disease Treatment
SynaptixBio’s work, driven by its innovative approach to gene silencing, represents a significant step forward in the treatment of rare diseases like H-ABC. With clinical trials on the horizon and continued collaboration with patient advocacy groups, the company is well-positioned to deliver groundbreaking therapies that could transform the lives of patients and their families. The future of rare disease treatment is looking increasingly promising, as gene-silencing technology opens new doors for therapeutic possibilities.
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