Scientific Strategy
To accelerate the development of effective treatments and a cure for POLG-related mitochondrial disorders by bridging foundational research, clinical science, and patient care in a barrier-free context.
To achieve our POLG research goals, we work in several different ways:
‘Call for Proposals’ Platform >
We support POLG academic researchers around the world by funding a diversity of preclinical, translational and clinical initiatives.
POLG Toolbox >
POLG iPSC Cells and Mouse Model available. See our POLG Toolbox items and contact us for further details.
Research Projects >
We have funded the development of two POLG Transgenic Mice. Characterisation is underway.
Partner with Us >
We actively invite biotech and pharmaceutical companies to reach out and partner with us to develop POLG therapeutics.
Defined Areas of Research
1. Research and Discovery
Basic Science and pathobiology: understanding mechanisms and modelling POLG disease
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- Understanding the pathophysiology and how this can be manipulated for therapeutic intervention
- Generating models that mimic human disease. Special focus on mouse, other and stem cell models to extend the reach of targeted therapies with phenotypic screening opportunities
- Using in vitro, in vivo and in silico (e.g. AI) models to understand disease mechanisms
- Using models to test drugs / compounds
Getting ready for clinical trials
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- Register / cohort studies
- Identification of genetic / environmental triggers
- Understanding the clinical diversity of this monogenic disease, identify POLG related and relevant clinical end points (clinical, patient reported outcomes PROMs and Patient-Reported Experience Measures PREMs), biomarkers to monitor disease progression
- Understand and map patient journey including HTA parameters
2. Therapeutic development
Clinical trials including drug repurposing initiatives
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- Pilot studies
- Full trials
Development of novel therapies
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- New therapeutic approaches to improve POLG function
- Development of drugs and / or repurposing of drugs to improve the biochemical and genetic defects seen in POLG disease. Special focus on – but not limited to:
- Nucleotide metabolism
- Innate Immunity
- NAD+ availability
- Advanced therapies e.g. gene therapy - New therapeutic approaches to improve POLG function
3. Clinical and regulatory advancement
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- Build a natural history study: Establish and maintain a detailed, longitudinal patient registry. This is critical for clinical trial design, identifying endpoints, and understanding disease variability.
- Standardize clinical care guidelines: Develop consensus guidelines for symptom management and crisis intervention to improve quality of life now.
- Engage with regulators (FDA/EMA): Proactively work to define acceptable biomarkers, clinical endpoints, and trial designs for these rare, progressive diseases to streamline future therapy approvals.
4. Collaborative infrastructure
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- Foster open science: Create a collaborative data-sharing platform for genetic, clinical, and research data.
- Bridge academia and industry: Act as a convener and matchmaker, connecting basic scientists with biotech/pharma partners. Provide seed funding for translational projects.
- Patient-centricity: Integrate the patient voice into every research priority. Support patient education and empowerment.
