Malattie Rare e Malattia di Huntington: gli impegni che i pazienti chiedono alle Istituzioni, europee e nazionali, per rispondere ai loro bisogni

Rare Diseases and Huntington's Disease: Patients' Appeal to Policy Makers


Rare Diseases affect less than 1 in 2,000 people. There are about 8,000 rare diseases. In Europe, there are 30 million rare patients of whom, according to Orphanet estimates, about 2 million live in Italy. The word 'rare' must therefore not be misleading, because the community of rare patients is big. The many rare diseases that exist are different from each other: for the different ages at which they can arise, for the type of disability they cause, for the knowledge or not of the cause, for the possibility or not of preventing them, for the availability or not of a care.
Rare patients have long been making their voices heard constructively. In the last year, in particular, the rare disease community - which also includes Huntington's patients - has helped to outline the axes of political planning that take into account also the rare patients needs.

Below, what should be the pillars of European policy on rare diseases and of European and national policy on Huntington's disease, from the patients point of view.



Rare2030 – Foresight in Rare Disease Policy 

Rare 2030 is the name of a prospective study conducted by Eurordis, with the support of the European Commission and the European Parliament, which has produced eight recommendations that the European Institutions are called to follow in the next ten years to improve the condition of people affected by rare diseases.

When talking about European policy, it is not possible to disregard national policy, as the first level influences the second and the second develops in coherence with the first. Therefore, the recommendations have a clear impact on national policies for rare diseases.


1) National and European Strategic Planning. Each Member State must have its own National Plan for Rare Diseases, consistent with the European strategy.

2) Earlier, Faster, More Accurate Diagnosis. European institutions must guarantee the most rapid and precise diagnosis possible.

3) High quality health care. European centers dealing with rare diseases must be specialized centers. 

4) Person-centered care. Europe must ensure that rare patients receive care that also takes into account their social and employment inclusion.

5) Partnership with patients. National and European health care systems must take into account the needs of rare disease patients by involving their organizations in decision-making processes.

6) Research and development starting from patients' needs. Decisions regarding research on rare diseases must also be made on the basis of patients' expectations and needs.

7) Data optimization. The sectoral approach to the use of data must be overcome: it is necessary that different countries and infrastructures share and use them in an integrated way and to achieve multiple purposes: epidemiological, statistical, research and social

8) Accessible therapeutic treatments. All treatments for rare diseases must be equally accessible in every country and provided at a fair cost.


European Consensus Statement on Huntington's Disease: Improving Access to care and treatment for HD patients and families  

Following a virtual roundtable discussion held on December 3, 2020, sponsored by the European Huntington Association (EHA) and the European Federation of Neurological Associations (EFNA), a document was developed that identifies five goals for improving the lives of those affected by Huntington's disease and a series of actions to be taken, both at the European and national level, to achieve them.


Gli obiettivi e le azioni del Consensus Statement sulla malattia di Huntington:



1) Address gaps in care for people with Huntington's disease.

- Increase the number of ERNs and strengthen collaboration among them

- Ensure the application of the International Guidelines for the treatment of Huntington's disease 

- Provide patients with multidisciplinary treatment 

- Invest in training of clinical staff

2) Ensure that research priorities take due account of patients' perspectives

- Improving the involvement of patients in R&D

- Leveraging European research and innovation programmes 

3) Facilitate patients' involvement in HTA (Health Technology Assessment) processes for pricing and reimbursement

Improving HTA, pricing and reimbursement processes across the EU for better and more equal access to rare disease treatments 

4) Take advantage of the renewed dynamism in health policy at the European level.

- Ensuring the Pharmaceutical Strategy for Europe concretely leads to better and more equal access
to treatment for rare disease patients across the EU

- Advocating for Member State governments to support the development of a strong European Health Union 

- Active patient group participation and engagement with policymakers to ensure Huntington’s Disease has a higher profile on the policy agenda at regional and national levels

5) Recognize rare diseases, including Huntington's, as central to the post-Covid health care world.

- Implementing national rare disease strategies which include specific measures to improve treatment,
care and support for everyone affected by Huntington’s Disease, including patients, families and carers 

- Increasing investment in national healthcare systems to increase capacity and resilience and ensure all rare disease patients can access the care they need


Color of Our Voices: LIRH patients requests to Italian institutions

The campaign "Color to our voices" promoted by the LIRH Foundation on the occasion of Rare Disease Day 2021 has highlighted nine unmet needs that represent traces of work for our institutions and are based on deficiencies and difficulties that patients and their families experience in their daily lives.


1) Easier and fairer access to care - Bureaucracy too often proves to be an obstacle to the right of access to care. When a patient's needs are equal, access to services is uneven. 

2) Training of health care professionals - Unpreparedness of clinicians and health care professionals is found far, far too, frequently

3) Financial aid - The economic burden of the disease is high. Especially in the more advanced stage when the patient is no longer able to provide for themselves. The partner, where present, is forced to reduce working hours (and therefore pay) in order to assist him. The economic aid provided to date is not sufficient to ensure dignity and quality of life for families.
4) Recognition of family caregivers - It is essential that the draft law on caregivers is resumed and completed.  It is necessary that their role is not only recognized, but also supported with adequate and continuous incentives that duly take into account the chronicity and degeneration of many rare diseases. 

5) Scientific research - Targeted and transparent investments in research are necessary, aimed at the treatment of the disease, even in its rarest and most severe variants.

6) Quality of life - It is desirable to have more integrated support from institutions, extending from health to social. Psychological, work and school support are still insufficient

7) More space for rare diseases in health policy decisions - Rare diseases should be included in the definition of health policies. It is essential to have a National Plan for Rare Diseases, including objectives and resources to achieve them. 
8) Territorial medicine - The 'hospital-centric' model of care, which entered into crisis with Covid-19, should be rethought and transformed into a 'person-centric' model, also involving patients' representatives.
9) Adequate and accessible inpatient care - Patients need - when the disease progresses - to be assisted in inpatient facilities. These, when present, often have two major shortcomings: inadequately trained staff and high costs. 


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