University Camilo José Cela joins efforts to research rare diseases with the Project 1×4

University Camilo José Cela (UCJC) has launched Project 1×4, with the aim of proposing a global intervention programme for patients suffering from Duchenne muscular dystrophy (DMD), or Duchenne syndrome, considered the most common rare muscular dystrophy disease diagnosed during childhood. The initiative has been launched with a cross-sectional perspective of students and lecturers from the degrees in Physiotherapy , Nursing , Psychology and Physical Activity and Sports Sciences.

This rare disease significantly limits the life expectancy of those affected. It is estimated that one out of 3,500 children in the world suffer from it, and about 20,000 new cases are diagnosed each year. DMD is caused by the mutation of a gene that causes a progressive muscle disorder, which in turn causes the loss of its function, hence the importance of approaching the treatment of the disease from an interdisciplinary point of view.

The UCJC team assessed the main difficulties and the first lines of treatment from a biopsychosocial perspective and came to the conclusion to opt for a specific treatment -such as hydrotherapy- for the patient, taking into account the four disciplines that include the professors who are part of the project.

With this type of initiatives, University Camilo José Cela promotes interdisciplinary work among students of different degrees, showing them the advantages of teamwork and the great possibilities offered by tackling, in a global way, conditions from the beginning. This training, based on a multidisciplinary education approach, promotes collaborative practice and improves teamwork by developing respect and recognition of the skills of individuals.

Over 40% of patients suffering from rare diseases need continued treatment with physiotherapy.

In the last 10 years, over 30,000 articles have been published related to rare diseases, with more than 3,000 entries per year in the last 5 years, which reflects the importance of research into this type of diseases.

Rare diseases have a low prevalence, with less than 5 cases per 10,000 inhabitants, according to the European Union. Due to the high frequency of diseases of genetic origin and the presence of congenital anomalies, in the majority of cases, rare diseases appear in infancy. However, the prevalence is higher in adults than in children, due to the excessive mortality of some childhood diseases (malformations or serious genetic diseases) and of late onset in certain autoimmune pathologies, amyotrophic lateral sclerosis or various genetic diseases, among others.

This means that between 6% and 8% of the world population could be affected, in some way, by these diseases. Specifically, more than 3 million people in Spain, 27 million in Europe and 27 million in North America suffer from some of these ailments. Estimating an average of four people per family, in Spain there are about 12 million people who live daily with a rare disease, either by suffering it directly or through one their closest relatives.

According to the Spanish Federation of Rare Diseases (FEDER, in Spain there are six Units and four Clinical Groups part of the Biomedical Network Research Centre for Rare Diseases (CIBERER), of which five of the 23 recently approved European Networks have been incorporated, specifically those of neuromuscular, hereditary metabolic, haematological and neurological rare diseases.

Patients suffering from a rare disease have many common needs with the rest of the most frequent chronic diseases, such as the difficulties faced by people who suffer from them and their families. However, the degree of disability presented by those affected is usually higher and the possibility of obtaining specific attention from structured resources is not usually adequate, which accentuates the social burdens that must be borne and affects the people surrounding them.

Sufferers are calling for comprehensive and integral attention that coordinates the planning of continuous care, both for the patient and the family, and helps the latter to assess the needs they have. In addition, families consider emotional problems as very important because they feel isolated and discriminated against even by the health system, given the general lack of knowledge and awareness of these pathologies, including on behalf of health professionals, who express insecurity when helping patients tackle their day to day problems.

The University Camilo José Cela Degree in Physiotherapy, aware of the therapeutic needs of this type of disadvantaged groups, promotes an academic and educational space that provides tools for students, and future health professionals, for tackling rare diseases. In this way, it generates a critical look at rare diseases and emphasises the biopsychosocial impact generated by the approach to them.

According to data held by the Professional Association of Physiotherapists of the Madrid Region (CPFCM), over 40% of patients suffering from a rare disease in Spain need continued physiotherapy treatment throughout their lives and wait an average of five years to start receiving it.

Although in Spain there are several postgraduate studies (Masters and University Expert Degrees) which are based on the study on the general and specific characteristics of rare diseases and ‘orphan drugs’, there are still no such postgraduate courses that specifically tackle physiotherapy for rare diseases.