After attending the 10th European Conference on Rare Diseases & Orphan Products (ECRD) in May, Alan Finglas founder and research manager of MSD Action Foundation and SavingDylan.com explains his hopes and fears in the coming years of how EU policy will shape the rare disease landscape and the importance it will play in driving change. Alan is concerned how things will look in the next five to 10 years unless huge improvements are made and how he has been inspired to write about two priority items that he feels must be delivered in order to drive real change for the rare disease community.

“I sometimes think of the landscape in the rare disease space when my son was diagnosed five years ago, where we are today and where we might be in the next five to 10 years’ time. This gives me a complete mixture of emotions. Positive things have been achieved but we must do much, much, more.

… I think we are all agreed that changing EU policy on rare diseases is very essential work.“

Attending ECRD 2020

The European Rare Disease Conference (ERDC) was held online on 14th and 15th May 2020. It was the largest online conference that I have participated in. It was a positive experience overall and I am encouraged that in the next six months Eurordis plan to pull together their medium to long term EU policy strategies for rare diseases. I think we are all agreed that changing EU policy on rare diseases is very essential work. I would like to take this opportunity to thank Eurordis, the European Reference Networks (ERN’s) that cover rare diseases and every patient advocate that works towards change for patients and their families that are affected. 

Multiple sulfatase deficiency: 

Is a complex, inherited disorder caused by a genetic mutation. The condition results in the dysfunction of specialised proteins known as enzymes responsible for the breakdown of certain sugars and fats in the body. As a result, these sugar and fat molecules accumulate to toxic levels in many of the body’s tissues and organ systems, especially the central nervous and skeletal systems. Because the disease affects different children at many different stages, multiple sulfatase deficiency is often classified as “neonatal,” “late-infantile,” or “juvenile.” Multiple sulfatase deficiency is one of about 50 diseases classified as lysosomal storage disorders (LSD). Source: Boston Children’s Hospital

EU policies are required to open the gates for real change in rare disease

I do fear how things will look in five to 10 years if we fail to make these huge improvements that ultimately help patients and their families. I would hate to be in a situation, looking back, saying “we could and should have done so much better.”

This inspired me to write about two priority items that I feel we must deliver on. There are many other particularly important EU policy changes required but I believe the following are crucial to open the gates for real change for the rare disease community:

1. An EU policy goal should be: To ensure that European countries must have a clear implementation plan and budget for their National Rare Disease Plans (NRDP). No half measures should be acceptable. This can mean that we will have a real chance of not leaving anyone behind.

• For anyone that was unaware, there was an EU directive in 2013 that all EU member countries had to develop and publish their own NRDP. Back then that was a huge win and I think most countries, or maybe all countries have now published a NRDP. Some of these plans are now expired and need to be renewed, updated, or prioritised. Some countries have made reasonable efforts and could present what they have implemented so far, but many have not acted properly in my opinion. If I am going to be totally honest, I believe most countries have failed to ensure there was a clear implementation plan and a red circled budget to ensure implementation. So where do we go now? Struggle on and hope it happens! No, I believe this would be a major failing.

• I think Eurordis, relevant ERN’s, elected EU parliament representatives for each country and other key rare disease organisations that are lobbyists for rare diseases need to be aligned on this to ensure change. Collectively, I think we need to go back to the very people, at EU level, that helped to approve this EU policy change in 2013. We need to help them understand the failures and convince them that every European country must have an active NRDP, with a clear implementation plan and appropriate budget for implementation. It should not be token amounts for budgets. There should be enough funding to ensure that the objectives are realised. Most NRDP’s, to my knowledge, were four-year plans and their recommendations may need to be prioritised. I think patients are best placed to assist with prioritisation and there are many well informed rare disease patients and caregivers that can and will step up. We must do this!

2. An EU policy goal should be that every country, at the very least, must have a rare disease: Contact Registry (no sensitive data or clinical data). These should be run and kept updated by health ministries via their National Rare Disease Office. They should be heavily promoted by healthcare professionals in every hospital. When there is a rare disease diagnosis, enrolment should become a natural thing to promote.

• Enrolment options into a national registry should be offered soon after diagnosis by the diagnosing health care professional (HCP). Such registries can open the doors to expand rare disease research. They can also increase the potential for patient benefit by understanding diseases better, in subsequent steps. Contact registries are a simplified way to really capture numbers of patients that are affected by specific rare diseases per country. They could offer information to patients such as the existence of disease specific registries that they might be able to join and include options for patients to be contacted if there are calls for patient involvement in research. The informed consents for enrolment would need to be cleverly written to maximise potential opportunities.

• I love to hear of dedicated efforts for disease specific rare disease registries, for me they mean hope.  I often feel that we could all wait a lifetime hoping for each country to develop and manage rare disease registries for all rare diseases including adequate management of them. If we continue at the current pace with efforts to establish registries, I am fearful as to what success might look like in the medium to long term.​ When my son was diagnosed, I wanted to pursue science for MSD. When I contacted experts, they told me again and again that finding patients and securing funding for research were critical to help kick-start research. I believe that without a better understanding of many rare diseases, especially in the case of ultra-rare ones, that the dream of getting to clinical trials to try to prove potential treatments are effective, will not become a reality.  We should think of rare disease contact registries as stepping-stones to disease specific registries and a way to attract more research. I propose that every EU country (and beyond) should have a National Rare Disease Contact Registry (NRDCR).

If everyone believes we will achieve!

About Alan, MSD Action Foundation and SavingDylan.com

Alan is the research manager and founder of MSD Action Foundation and is working to accelerate research on MSD by supporting a pipeline of research that is showing great promise in supporting potential treatments and meaningful research advancements on MSD.

MSD Action Foundation and SavingDylan.com were established in 2015 by Dylan’s parents Alan and Michelle Finglas with the help of some wonderful volunteers and board members. The foundation aims to promote and support research advancements that will lead to improvements in clinical outcomes, life expectancy and quality of life for patients suffering from multiple sulfatase deficiency.