Cutting edge science in action
Our Research Strategy
The ASNSD Research Association is building a coordinated international research program with the goal of developing treatments for ASNSD. Our strategy combines gene therapy, RNA-based therapeutic approaches and drug repurposing, allowing us to pursue multiple potential paths toward treatment in parallel.
Our first major research collaboration was established with the Genetic Therapy Accelerator Centre at UCL Queen Square Institute of Neurology, a world-leading centre bringing together laboratory and clinical expertise in neurological and genetic disorders and the development of advanced genetic therapies.
At UCL, two complementary therapeutic approaches are being investigated for ASNSD. The AAV gene therapy program, led by Prof. Joanne Ng and her team, aims to develop a gene replacement therapy capable of delivering a functional copy of the ASNS gene. In parallel, the ASO program, led by Dr Sara Aguti and her team, is exploring RNA-based approaches targeting the underlying genetic mechanisms of the disease.
Alongside these programs, we have established a collaboration with the University of Geneva focused on drug repurposing. Led by Prof. Vladimir Katanaev and his research team, the project aims to identify existing compounds that could potentially modify disease mechanisms or improve outcomes in ASNSD. By investigating drugs that have already been developed or characterised for other indications, this approach may provide an additional and potentially faster path toward therapeutic options.
Together, these research programs form a complementary therapeutic strategy: developing a treatment that addresses the genetic cause of ASNSD while simultaneously exploring approaches that could potentially benefit patients sooner.
By bringing together leading scientists across different therapeutic disciplines, our goal is to create a focused and collaborative research ecosystem capable of moving promising discoveries from the laboratory toward treatments for children living with ASNSD.
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Scientific updates
July 2026 - We are pleased to share an update on the research programs your support is helping to advance. Across multiple complementary therapeutic approaches, our collaborators continue to make steady progress toward developing treatments for ASNSD, with important milestones being reached in gene therapy, antisense oligonucleotide development, and drug repurposing.
In our AAV gene therapy program, vector designs are complete and in vivo preclinical testing is being commenced for proof-of-concept efficacy and safety studies. These potential IND-enabling data will be essential in conversations with the medicine regulatory bodies about future first-in-human clinical trial for ASNSD. Whilst we hope these efforts will present novel therapeutic option for children affected by ASNSD, careful works are planned for translation. This effort is being led by Prof. Joanne Ng at the Gene Therapy Accelerator Centre of UCL.
In addition, our antisense oligonucleotide (ASO) exploratory program, led by Dr. Sara Aguti also at UCL, is advancing. A panel of ASOs has been designed and evaluated in Erik’s fibroblasts, leading to the identification of a lead ASO candidate. Ongoing experiments are investigating whether the canonical splice site retains residual activity, which will be crucial for determining the feasibility of an exon-skipping ASO approach to correct Erik’s splicing defect.
Alongside this, our drug repurposing efforts continue to progress with strong momentum, led by Prof Vladimir Katanaev and dr Jelena Gajić at University of Geneva. The Drosophila model is on track, progress toward establishing the mouse model is ongoing, and the in vitro assays are advancing steadily. Our goal is to systematically screen FDA-approved compounds to identify candidates capable of restoring protein function, providing potential therapeutic options while gene therapy approaches are being developed. If all go well the first high through-put screening may happen as early as July.
Together, these programs reflect a strong dual strategy: developing long-term curative therapies while also exploring nearer-term opportunities for functional rescue.
Photo credit: SWI swissinfo.ch/Céline Stegmüller
Our Research Partners
University College London
Partnering with the UCL Queen Square Institute of Neurology Genetic Therapy Accelerator Centre for two ongoing research projects covering AAV gene therapy & ASOs approach.
University of Geneva
Partnering for drug repurposing with the Department of Cell Physiology and Metabolism Translational Research Centre and the HumanaFly facility
Our team of esteemed experts overseeing the scientific work making sure that it's undertaken to the highest standards. The Advisory Board provides oversight and input to the projects.