Exponents of non-drug research also spoke about how new information on lifestyle changes and other interventions can dramatically alter the patient-experience. Dr. Sean Ennis highlighted research, which influenced a small change in diet to get disproportionate quality of life improvement and Prof. Gerry McElvaney referred to Alpha-1 research which showed that smokers with PiMZ were five times more likely to develop COPD than their non-smoking counterparts, prompting a targeted detection program.
The theme of teams was prevalent throughout the day and all speakers advocated for the need for international collaboration to improve the options available to people with rare diseases. Indeed, Mark Pollock opened the meeting by asking the question "How do we organize a disparate group around a common goal?" Prof. Treacy referenced GalNet - The Galactosemia Network as an example of groups coming together to work toward new clinical guidance and new therapies.
"If you're just asking for more money, you're on a hiding to nothing. Make the cost saving argument to say that people treated early and appropriately will ultimately save money. "
Pharmaceutical R&D and clinical development have already begun the process of including the quality of life procedures that are necessary to make the value for money argument. However, this will, unfortunately, add to the ever increasing complexity of protocols and burden on clinical trial participants.
The challenges in this sector are indeed great, but not insurmountable. "History is full of stories of those that make the impossible possible. When I went to the South Pole, I went as an adventurer. But as a patient in translational medicine, my journey is as an explorer." Mark Pollock - Explorer