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Rare Barometer 2021: patients opinion on the future of rare diseases

A few days ago, the results of the 'Rare Barometer on the future of rare diseases' survey by Eurordis were published.

The online survey - in which also LIRH Foundation took part - was conducted from 3 December 2020 to 17 January 2021, with the aim of collecting patients' opinions and experiences and transforming them into useful information for policy makers. About 4000 responses from 70 different countries were analyzed, representing 978 different rare diseases, including 356 from the 'rare neurological diseases' area, including Huntington's disease.

The rare disease community has identified four priorities:


1 - Access to treatments and coordinated health care

Access to treatments and therapies not yet available, better coordination of health care, access to specialized care are the three priorities that patients have identified by 2030. Expectations for advanced therapies, especially gene therapy, are very high. Furthermore, for treatable rare diseases, 95% of respondents strongly support the need to introduce newborn screening.


2 - Integrated health care and social care

Most rare patients (79% of respondents) do not expect a cure for their disease to be found within the next 10 years, but believe it is possible to improve their quality of life thanks to integrated health and social care. How? Stabilizing (chronicizing) the disease, better managing symptoms through the combination of pharmacological and non-pharmacological therapies, receiving emotional and psychological support and with the implementation of employment policies for rare patients.

3 - Access high quality (multidisciplinary) health care

Everyone would prefer to be treated close to home, but rare patients are aware of the small number of competent centers, so most of them are available to use to remote consultations (81%) - thus confirming that telemedicine is a fundamental resource - better if the clinical team has already been previously met in person. They are also willing to travel, moving not only to another city, but also to another Country, in order to receive specialized and competent care for their rare disease (85%). Furthermore, the responses show that 'multidisciplinarity' is considered an integral part of 'competent' assistance.


4 - A call for research that involves patient organizations

Respondents believe that scientific research is fundamental for all rare diseases, not only for those currently without treatment, but also for those whose pathogenetic mechanisms are unknown, for those with very high costs for families and also for ultra rare diseases. Rare patients expect that patient organizations play a more proactive role in research. Rare patients believe that their representative organizations should not 'just' foster patient participation in trials, but should also be official partners and co-investigators (94%), raise funds for research (78%) and lead their own research projects (71%).


"Even if for some this priority area may be unexpected - declares Barbara D'Alessio, President of the LIRH Foundation - we recognize ourselves perfectly in it. It is what we do every day: working together with patients and researchers in the attempt to contribute to the advancement of scientific research. Only with research, the only weapon we have at our disposal to understand what we do not yet know about Huntington's disease - and only with patients playing an active role - it will be possible to have effective treatments available reasonably soon".


Infographic in Italian available on this page.  

Read the appeal of the HD Community to policy makers HERE e HERE

Full Rare Barometer Report in English HERE.

Read the Eurordis Rare 2030 Recommendations