Proposals against rare disease challenges

The Legislative Observatory of Rare Diseases and Orphaned Medicines presents a Decalogue of Proposals with the objective of promoting, during the present legislature, regulatory changes that guarantee equity in the diagnosis and treatment of these minority pathologies in Spain.

The proposed document, presented at the Congress of Deputies, constitutes the response of a multidisciplinary group of experts to the regulatory modifications announced by the Ministry of Health in relation to rare diseases.

These rare pathologies, mostly of genetic origin, affect three million people in Spain that face challenges such as diagnosis delay, which is located in six years on average, or the absence of specific treatments.

Therefore, orphaned medications, specifically developed to treat these pathologies, are hope for many patients. However, its access is limited by complex administrative processes and territorial inequalities that delay their availability.

Of the 17 new orphaned medications financed in 2024, almost half of them have waited for an average of between 1 and 2 years to achieve financing, and 30 % more than 2 years, according to the Legislative Observatory of Rare Diseases, collaborative platform of experts from different areas born under the umbrella of the University of Alcalá de Henares and now with the University of Granada.

Proposals for a normative change in rare diseases

These are the ten measures that this organ considers essential to move towards a
Comprehensive and equitable approach to rare pathologies.

1.- Update the strategy in rare diseases of the National Health System

Once this strategy is updated, the Ministry of Health together with the Autonomous Communities, Scientific Societies and Patient Associations, should carry out a periodic evaluation of its degree of implementation and fulfillment of objectives.

2.- Strengthen the early diagnosis in rare diseases

Expand neonatal screening programs and incorporate new diagnostic techniques such as the sequencing of the genome and exoma or gene panels.

3.- Comprehensive training in rare diseases for health professionals and patients

This training must be continuous and active, both in primary care and in hospital care, throughout the professional career. In addition, the specialty in clinical genetics, essential for early diagnosis.

4.- Ensure greater socio-health coordination

Indispensable the joint work of the departments of Health, Social Services and Disability to provide the medical professional with a global vision of the patient’s needs.

5.- Improve the network of centers, services and reference units

Improving the connection with regional hospitals would contribute to patients and their families receiving healthcare that need themselves without being forced to make long displacements.

6.- Create a unique record of rare diseases

This registry would contribute to improving epidemiological knowledge, facilitating a faster and more precise diagnosis and optimizing health resources, in addition to promoting clinical research and collaboration of health centers.

7.- Special economic regime for orphaned medicines

Essential for your authorization, financing and pricing.

8.- Agilized procedure for orphan medications

Establish a procedure to expedite prices and financing authorization
of orphaned medications. And should be evaluated under a specific regime that avoids its inclusion in the general indicators of hospital spending, which would allow a
more efficient, realistic and adapted management to its peculiarities.

9.- Informative and awareness campaigns to citizens about rare diseases

Information that avoids stigmas and discriminations, foster social understanding and empathy.

10.- Improve financing for care and treatments of rare diseases

Allocate specific and finalist budgetary items for the management of rare diseases and that correct territorial imbalances in access to socio -health care and
treatments.