In the Andalusian Public Health System, 739 research projects are being carried out in the field of rare diseases with the aim of improving their diagnosis, prognosis and treatment, representing an increase of 55% compared to 2018. This increase is further evidence of the Andalusian Government’s clear commitment to health research.
Rare diseases are those that have a low prevalence in the population and affect less than five out of every 10,000 inhabitants. According to the World Health Organisation, there are around 7,000 rare diseases affecting 7% of the world’s population. In Spain, it is estimated that there are more than 3 million people suffering from these diseases.
Specifically, the Andalusian public health system is developing 80 research projects (compared to 62 in 2018) and 659 clinical studies (compared to 414 in 2018) that address diseases such as lymphoma, multiple myeloma, Crohn’s disease, haemophilia and psoriatic arthritis, among others. For the development of research projects, 9.3 million euros have been raised in competitive calls for proposals, mostly from funding bodies such as the Regional Ministry of Health and Consumer Affairs itself – through the Progreso y Salud Foundation – and the Carlos III Health Institute.
On the other hand, the 659 clinical studies being carried out account for around 16% of the active clinical studies in the Andalusian Public Health System. Of these, 485 are clinical trials, 169 observational studies and five studies involving medical devices.
Of the 485 clinical trials currently underway, 196 are in phases I and II, known as early phases. These trials assess the effectiveness and safety of new drugs (including studies in which the drug is administered for the first time in humans) and require a higher level of complexity in terms of quality, safety and facilities.
Clinical trials are multi-centre investigations involving professionals from different healthcare centres. In this sense, these clinical studies represent 896 participations in twenty centres of the Andalusian Public Health System. According to this criterion, the centres that participate most in clinical studies related to rare diseases are the Hospital Virgen del Rocío (37%); the Hospital Regional de Málaga (13%); the IMIBIC (11%); the Hospital Virgen Macarena (10%); and the Hospital Virgen de la Victoria (8%).
Clinical practice guidelines on rare diseases
In addition to this research, it is worth highlighting Andalusia’s role in projects that transcend borders, such as the European project coordinated by the Health Technology Assessment area of the Progreso y Salud Foundation for the development of clinical practice guidelines for rare diseases.
Its objective is to develop clinical practice guidelines and clinical decision support tools for European Reference Networks (ERNs) for the care of rare diseases. They are recommendations for healthcare professionals on how to approach the care and treatment of patients with certain pathologies. Their elaboration responds to the need to have materials based on scientific evidence that can help professionals in their professional practice. In the case of rare diseases, the existence of these documents is even more relevant, given the complexity of the approach to these diseases.
To undertake this project, the Progreso y Salud Foundation has brought together a consortium of partners including the Health Quality and Assessment Agency of Catalonia (AQuAS), the Andalusian School of Public Health (EASP), the Basque Foundation for Health Innovation and Research (BOIEF), the Aragonese Institute of Health Sciences (IACS) and the Canary Islands Foundation for Health Research (FIISC), as well as the Universitat Oberta de Catalunya (UOC).
Identifying genes in rare diseases
Aware of the difficulty in diagnosing these diseases, the Fundación Progreso y Salud’s Computational Medicine Platform is developing computer applications and tools that integrate genomic data and biological knowledge to identify rare disease genes in undiagnosed patients. According to the scientific director of the platform and member of the CIBER on Rare Diseases since its foundation, Joaquín Dopazo, «these applications will analyse the patient’s genetic mutations (obtained after genome sequencing) and simulate their effect on cells of different human tissues to observe what functional changes occur and identify those that are potentially the cause of the disease by comparing them with those that occur in rare diseases with genes already identified or with functional changes that have already been predicted».
Health research, with which to improve the quality of life of patients, is a commitment of the Andalusian Government. To this end, the main lines of action are articulated in the Andalusian Health R&D&I Strategy, a strategic framework for the promotion of initiatives in this area in the 2020-2023 period.