ERN-RND at ECRD 2020 – summary

The 10th European Conference on Rare Disease & Orphan Products (ECRD) organised by EURORDIS took place online on 14-15 May 2020.
ECRD is the largest, patient-led rare disease conference gathering all stakeholders from patient organisations, policy makers, researchers, clinicians, industry representatives, payers and regulators for two days of talks and interactives sessions. Taking place every two years in a different European city, the current pandemic forced conference organisers to cancel the physical event planned to welcome participants in Stockholm, Sweden and move to an online format. It was the first virtual large-scale conference ERN-RND attended!

This year’s theme was “the journey of living with a rare disease in 2030” and aimed at preparing for the future by creating policies that will improve the patient journey in ten years and beyond.
Talks revolved around six main themes:

  • Theme 1: The future of diagnosis: new hopes, promises and challenges
  • Theme 2: Our values, our rights, our future: shifting paradigms towards inclusion
  • Theme 3: Share, Care, Cure: Transforming care for rare diseases by 2030
  • Theme 4: When therapies meet the needs: enabling a patient-centric approach to therapeutic development
  • Theme 5: Achieving the triple A’s by 2030: Accessible, Available and Affordable Treatments for people living with a rare disease
  • Theme 6: The digital health revolution: hype vs. reality

In relation to this theme, the initial results of Rare 2030 were presented. Rare 2030 is a foresight study running over two years and which gathers the input of a large group of patients, practitioners and key opinion leaders to propose policy recommendations that will lead to improved policy and a better future for people living with a rare disease in Europe.

And of course, ERN-RND actively participated in ECRD! Indeed, Holm Graessner, ERN-RND and Solve-RD coordinator (Institute of Medical Genetics & Applied Genomics, Centre for Rare Disease, University Hospital Tübingen, Germany) gave the following talks on 15 May:

  1. “Solving the unsolved. From ERNs to Solve-RD.”
    →key message: The collaboration of ERNs and Solve-RD unlocks the collective intelligence of clinicians, researchers and bioinformaticians to solve unsolved rare diseases.
  2. “What comes after diagnosis? Approaches for targeted treatment.” where three main approaches were discussed: Treatabolome, Treatment algorithms and Clinical information points for rare diseases.
    →key message: Diagnosis should not be the start of another odyssey for rare disease patients, the treatment odyssey. Solutions that facilitate an informed link of diagnosis & respective targeted treatments are needed.

Olaf Riess, ERN-RND member & Solve-RD coordinator (Institute of Medical Genetics & Applied Genomics, University Hospital Tübingen, Germany) presented “When do we call someone undiagnosed in the rare disease genetic clinic”.

Finally, some recurrent points were mentioned throughout the conference including the gap in access to diagnosis, treatment and care for RD patients in Europe depending on the country of residence, the importance of a holistic approach and coordinated care as well as the need for rigorous quality assessments in regards to the ERNs’ expansion phase.

ERN-RND being a patient-centred network, ECRD is an important event where we can raise awareness of the work we all do. This includes highlighting the possibilities that are available to more than 500,000 people affected by rare neurological diseases in Europe in regards to online consultations and collaboration between healthcare professionals across Europe for better and timely diagnosis, treatment and care.

Let’s continue working together across borders and let’s not leave anyone behind!