Claudia Fuchs: The potential of drug repurposing in rare diseases
September 2024Out of the more than 7,000 rare diseases identified today, fewer than 6% have an approved treatment option. This statistic starkly underscores the vast unmet needs in drug development, particularly given that around 80% of these diseases have a known genetic origin or molecular basis. Addressing this gap is a crucial mission for the rare disease community, and one promising strategy gaining momentum is drug repurposing.
At EURORDIS, we are keen to explore the potential of drug repurposing, which is why I am honoured to be guest-editing, and inviting manuscripts for, a Special Issue in the International Journal of Molecular Sciences (IJMS) on “Drug Repurposing in Rare Diseases: From Molecular Insights to Patient Benefits.”
But what is drug repurposing?
Drug repurposing, also known as drug repositioning, involves finding new therapeutic uses for existing medications.
Think of drug repurposing like a Swiss Army knife. Just as these tools have multiple functions—like cutting, opening bottles, or even sawing—some medicines can be used to treat more than one illness.
Originally, a drug might be designed for a specific purpose, just like the main blade of a Swiss scissors is intended for cutting paper. However, scientists might discover that this same drug can also help with a completely different condition, similar to how the Swiss Army knife can also be used to cut fabric or trim herbs. This new use is what we call “repurposing.”
So, instead of spending time and money creating a brand-new drug from scratch, which is like inventing a whole new tool, scientists take an existing “tool” (or drug) and find new ways to use it. This approach can save time and money, and more importantly, it can help people with rare diseases get the treatments they need faster.
From molecular insights to patient benefit
This Special Issue which I will be guest editing will bring together cutting-edge research and insights from experts around the world to explore the full potential of drug repurposing for rare diseases, with a strong emphasis on harnessing molecular insights behind these conditions.
Understanding the molecular mechanisms underlying rare diseases – how rare disease work at the smallest level, like genes and molecules involved – is key to discovering new treatments and repurposing. By delving into the genetic and biochemical pathways that contribute to these conditions, scientists can identify existing drugs that might correct or mitigate these dysfunctions. This molecular-based approach allows for a more targeted and efficient path to finding effective treatments.
A successful example of molecular-based drug repurposing
A notable success story of molecular-based drug repurposing is everolimus (Afinitor). Originally developed as an immunosuppressant for organ transplant recipients, everolimus works by inhibiting the mTOR (mechanistic target of rapamycin) pathway, crucial for cell growth and proliferation. This drug was effectively repurposed for treating Tuberous Sclerosis Complex (TSC), a rare genetic disorder characterised by non-cancerous tumours in multiple organs, including the brain, kidneys, heart, and skin. The disease is caused by mutations in the TSC1 or TSC2 genes, which lead to dysregulation of the mTOR pathway, promoting abnormal cell growth. Scientists have demonstrated that everolimus, through its inhibition of the mTOR pathway, could potentially address the underlying cause of TSC by controlling the growth of tumours and improving symptoms. This discovery was based on understanding the molecular mechanisms of TSC and how everolimus’s action could counteract the disease’s.
In the early 2010s, both the FDA and EMA approved everolimus, marketed under the brand name Afinitor, for the treatment of TSC-related tumours. This marked a significant advancement in managing TSC and provided a new, effective treatment option for patients, showcasing the powerful impact of molecular-based drug repurposing in addressing unmet medical needs.
Call for manuscripts
Our goal with this Special Issue is to showcase the latest advancements in drug repurposing research, highlight successful case studies, and address the challenges and opportunities in this field. By spotlighting the intersection of molecular insights and practical applications, we aim to accelerate the development of new therapies and ultimately bring tangible benefits to patients suffering from rare diseases.
I am excited to invite researchers, clinicians, and patient advocates to contribute to this Special Issue. Your expertise and insights are invaluable in our collective effort to expand treatment options for the rare disease community. Manuscripts should focus on themes such as successful case studies, molecular insights driving new therapeutic opportunities, and preclinical evaluations of repurposed drugs.
Please submit your manuscripts by 30 November 2024.
By participating, you will help illuminate new therapeutic pathways and foster collaboration in this vital area of research!
By Claudia Fuchs, Drug Repurposing Projects Senior Manager, EURORDIS-Rare Disease Europe
Disclaimer: As a Staff Blog, the opinions – including possible policy recommendations – expressed in this article are those of the author and do not necessarily represent the views or opinions of EURORDIS. The publication of this article on the EURORDIS website does not equate to endorsement.