January 2017

Fiona Lawrence, Director of Research and Clinical Development at Duchenne UK, discusses the challenges and innovations impacting rare disease research today with Partnerships in Clinical Trials. See the original blog post here.

As Director of Research and Clinical Development at Duchenne UK, Fiona Lawrence helps find and evaluate research projects that can contribute to fighting Duchenne Muscular Dystrophy. She has a particular focus on ‘projects that have the potential to accelerate the development of new treatments so making them available to patients as soon as possible’.

We spoke to Lawrence about the challenges and innovations impacting rare disease research today.

What are the biggest challenges of running clinical trials for a rare disease?

FL: ‘Duchenne Muscular Dystrophy is a relatively common rare disease, it is caused by a mutation in the gene located on the X chromosome that codes for the protein dystrophin and it occurs in approximately 1:3500 to 1:5000 live born boys and has the same incidence worldwide. The main challenge of running clinical trials for Duchenne is in the design of the trial. The inclusion criteria and endpoints need careful consideration in order not to be confounded by the natural history of the disease.’

What techniques/innovations can be used to get around these challenges?

FL: ‘There is currently enormous investment in the validation of new biomarker endpoints, such as MRI, that could potentially give an earlier signal of the efficacy of an intervention to allow accelerated approval that could then be confirmed by longer term functional outcome studies.’

How are innovative drug development approaches bringing new treatments to patients faster?

FL: ‘One of the areas we are focusing on at Duchenne UK is the re-purposing of existing medicines to treat DMD.  The consequences of a lack of dystrophin are manifold and there are several potential pathways (eg anti-inflammatory or anti-fibrotic) in which a drug could be effective. We are hoping to be able to shorten the development time for effective treatments by supporting trials of re-purposed drugs.’

How important is a patient-centric approach to successful rare disease clinical trials?

FL: ‘It is vital to involve patients in the design of clinical trials to ensure that the outcomes being measured are of real world significance. This is especially important for rare disease trials as, by definition, the patient population is small and so a new drug that is shown to be safe and effective is likely to be expensive as industry seeks to re-coup the development costs. Health authorities need to be convinced of the improvement in the quality of life offered by the new medicine in order to reimburse its cost.’

What are the biggest changes you hope to see in 2017?

FL: ‘For rare diseases, clinical trials are too expensive and take too long. We need to find quicker ways to evaluate potential new medicines, such as identifying important protein biomarkers, to bring them to patients.  The safety and efficacy of the new drug could then be monitored in the real world in confirmation studies.’