Rare Disease Summit Report

Rare Disease Summit Report

Our FD-UK Vice Chair Dr Shara Cohen attended the rare disease summit, ‘patients as partners’ a forum at Cambridge University.

This annual event is a joint meeting between UK patients, scientists and pharma who are involved in all aspects of the rare diseases. The current situation regarding therapies is that only 5% of rare diseases have any sort of therapy at all. Only 10-15 orphan drugs are approved each year. The pace for developing a drug is too slow for people who currently have a rare disease. Pharma, science and patient groups are all committed to finding cures quicker, faster and cheaper and they need to work together to get this. There are 7000 rare disease charities/patient groups that need to work together as they have a common goal.

There was talk of starting a funding group to support patient groups (like FD-UK) to understand how to access ways to get research for their disease.

Big Pharma say that small patient groups should not be scared of asking them for help. The only current ways to get around the lack of drugs for rare diseases are:1) Drug repurposing2) Be better informed of label use3) Find diseases with similar symptoms to crossover research It is the patient community which holds the responsibility to push the research. Funding is not the only criteria needed for rare disease research. Collaborations and connecting different partners like patients and researchers is also very important.There are 12 big Pharma companies (including Pfizer and GSK) who work together with scientists / universities to share data to assess disease progression and treatment. The aim is to reduce the time it takes to get treatments to the patients. Acceleration of research ‘from bench to bedside’ seemed to be the theme of the day. This is directly relevant for people with FD. There is also a big effort to create hubs so that every person with specific rare diseases can get access to trials. Nurses, statisticians and everything that is needed is paid for by the hub to support pharma to enable patients to go in trials, as in the past people have been turned away from clinical trials run by pharma due to lack of funds.

There was also a lot of discussion around setting up a social fund for diseases that don’t need drug development but need tech development or respite.

The Big Pharma who were there (AstraZeneca mainly) said that there is a loophole in drug costs where some (smaller) pharma will increase costs of drugs ridiculously and pressure on local MPs to increase the expensive drug supply seems to be the way forward. Examples of what is happening with various rare diseases Duchenne UK have repurposed tamoxifen (a drug I personally used for my cancer treatment) to treat symptoms of Duchenne. They think supply will be affected by Brexit, but have set up an international hub to overcome this.

The International Gauchet Alliance makes sure that no one intentionality is alone and empowers patients globally who cannot get treatment locally. They are developing wearable technology to assess diseases impact so that trials can properly assess/validate drug efficiency outcome. Ring20 is a patient support group for ring chromosome 20 syndrome (less than 50 patients worldwide). Their emphasis is ‘share if you are rare’ and they encourage the ultra rare diseases to get together to share experiences and help with research together. This is very relevant to FD-UK which support the ultra rare disease FD.

My opinion is that we should start to call FD an ultra rare disease as will have significance within the science community.

By being part of other groups we can

  • Raise the charity profile
  • Increase awareness
  • Increase information flow and education
  • Help with funding
  • Partner with others for research
  • Raise the patient voice

The overall message was the rare diseases need to work as a community. Pharma, scientists and patients need to work together and the rare diseases and ultra rare diseases need to collaborate with each other alot more. This event went someway to facilitate this.

Anyone involved in rare diseases would benefit for attendance at this annual conference. Details of future events can be found at https://camraredisease.org/

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