Europe Rare Disease Summit

Feb 17, 2023

With Rare Disease Day coming up, FH Europe was present at the Europe Rare Disease Summit in Madrid, Spain. The event was hosted by Bamberg Health, held in a hybrid format on 15 February 2023!

The objective of the Summit was to discuss the key trends and topics relating to diagnostics and treatments for rare diseases. Attendees explored the challenges to timely and equitable access to (orphan) drugs and delved into European initiatives for access, research and innovation programs that were designed to improve the lives of those living with a rare disease.

The event was attended by governmental authorities and regulatory agencies, large public and private hospital groups, research centres, pharmaceutical and patient associations, scientific societies and health professionals from all over the region.

Topics of discussion:

  • National plans, policies and government initiatives for rare diseases
  • Innovation and access to Orphan Drugs: Challenges and opportunities
  • The role of artificial intelligence in overcoming the challenges of rare diseases-specific registry and diagnostics
  • Advances in rare disease diagnosis and treatments: Gene therapies
  • Viral vector & mRNA technologies: Implementation and future development for rare diseases
  • The patient’s voice as a driver of access and drug approvals

Despite the very specific focus on rare diseases, aspects related to FH and lipid lowering therapies were brought up in the context of mRNA technology. Magdalena Daccord represented the HoFH and FCS community and was speaking on “The patient’s voice as a driver of access and drug approvals” panel session with representatives of FEDER, the Spanish Federation of Rare Disease Patient Organizations, the French NMO Association, Beacon Rare Diseases from the UK and UCB – a pharmaceutical company.

The speakers advocated for a greater involvement of patient representatives in the process of clinical trials design and review, articulated the need to support patients in the education process through funding and the creation of appropriate learning opportunities about drug development. They also share various examples of obstacles and challenges to patient participation (time, language, topic related expertise, privacy, personal health, etc) on one hand as well as opportunities generated thanks to an early patient engagement for drug approval and access success.

Check the program here

FH Europe is registered as a charity; Charity number 1170731, registered in England and Wales.

FH Europe is registered as a charity; Charity number 1170731, registered in England and Wales.

FH Europe is supported by an educational grant from Amgen Limited, Sanofi, Regeneron, Akcea Therapeutics Inc. and Amryt
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