Maximising the attractiveness of promising new treatments in rare disease

Written by Gavin Jones on Tuesday 22nd May 2018

Following Gavin’s attendance at the European Conference on Rare Diseases and Orphan Products (ECRD) in Vienna he considers how the rare disease community can further be informed on the steps towards the introduction of a new treatment and, in doing so, increase the opportunity of partnership for accelerating patient access to new innovation. 

I recently returned from ECRD in Vienna and I wanted to provide a few topic suggestions for future conferences that may assist foundations, patient groups, and start-ups to move beyond conventional clinical trial programmes. Understanding more on these subjects can I believe further accelerate patient access to new innovative treatments ensuring ‘no-one is left behind’.

It was interesting to listen to Majid Jafar talk about the extraordinary journey he and his wife have taken in the development of the LouLou foundation.  A positive story demonstrating that rapid progress towards active treatment from lab through clinical development is possible; in this instance for CDKL5 deficiency. At a Findacure conference earlier this year, Professor Michael Briggs shared another impressive story of initiating and funding a clinical trial programme through the repurposing of Carbamazepine. He described how he is working towards fully assessing the efficacy of this molecule to treat a rare bone disease - metaphyseal chondrodysplasia type schmid. He has received funding for a Phase 2 study through effective engagement with the European Medicines Agency, for orphan designation and protocol assistance, and gaining a funding grant through the Horizon 2020 research and innovation programme.

I am sure these and other examples supports other patient groups and start-ups with the belief that the mammoth undertaking of drug development is possible with sharp minds, a degree of funding (possibly crowd) and of course a following wind. But I suppose the question is what then? Any established pharmaceutical company will agree that in some ways the journey has just begun. Introducing a new treatment to single or multiple countries across the world offers up a whole new set of challenges. In rare disease the challenges can in fact be even more unique dependent on the disease area; the current patient pathway and existing treatment availability.

Some patient groups and start-ups may be hoping and planning to take the treatment right through to commercialisation.  However probably the most obvious and pragmatic option for patients groups and start-ups would be to partner with a pharmaceutical company. This could be by simply selling the asset/the whole start-up organisation to the company or creating an ongoing commercial partnership as the treatment is introduced. A very current example of the latter is the announcement last week of collaboration and supply partnership between the Progeria Research Foundation and Eiger Biopharmaceuticals.

Majid Jafar spoke with insight regarding the benefit of ‘de-risking’ a partnership for Pharma.  What I believe he meant by this was that it was important to remove as many barriers as possible and optimise the attractiveness to a potential partner. A lot of this attractiveness will be derived from any lab work or clinical programme but if you progress further I think there are other pragmatic ways that this can be increased.  Some initial thoughts are:

  • Gain an understanding of the burden of disease and impact on patient & carer quality of life and start to build a value proposition for the treatment
  • Develop awareness of the current treatment pathway and identify blocks
  • Create a community of Key Opinion Leaders across the treatment pathway
  • Engage with a wide range of patient groups across relevant countries
  • Understand payer and policy makers evidence & value requirements
  • Develop the foundations of a value dossier to assist regulatory and HTA processes
  • Develop media awareness of unmet need and the potential of new treatment options
  • Begin to consider the design of real world studies that will complement the clinical programme
  • Consider the creation of disease registries to support further understanding of the disease

In summary there is absolutely no doubt that drug development and subsequent commercialisation is really challenging but there are an increasing number of success stories in rare disease. Generating a wider understanding of progressing beyond a clinical development programme, and inform on how to maximise the attractiveness of promising new treatments, will I believe assist in accelerating further access and uptake in this area.

Gavin Jones is Director of Rare Disease for OPEN Health. He works with organisations big and small in supporting the introduction of rare disease treatments using the broad range of Open Health’s capabilities. If you would like further advice and information please contact him at