THE DISEASE

Lysosomal storage disorders (LSDs), such as Fabry, Gaucher, Hunter, and Sanfilippo diseases are a group of Rare Diseases that currently lack a definitive cure. These kind of diseases individually occur with incidences of less than 1:100,000; but as a group the incidence is about 1:5,000 – 1:10,000, representing a serious global health problem. LSDs result as a consequence of lysosomal dysfunction, usually because of deficiency of a single enzyme required for the metabolism of macromolecules such as lipids, glycoproteins and mucopolysaccharides.

In the case of the Fabry Disease (FD), the deficiency of α-Galactosidase A (GLA) enzyme activity result in the cellular accumulation of neutral glycosphingolipids, leading to widespread vasculopathy with particular detriment to the kidneys, heart and central nervous system.

INNOVATION THROUGH NANOFORMULATION

The use of nanotechnology based on the development of new lipid nanoformulations will protect and specifically deliver active compounds and improve the pharmacokinetics and pharmacodynamics of actual Fabry disease therapies by decreasing the total dose of drug used, minimizing the toxicity profile, reducieng the appearance of resistance and increasing the delivery of the enzyme in the target tissue.

Smart-4-Fabry is strongly focusing on three KETs: nanotechnology, industrial biotechnology and advanced materials, contributing in this way to support the European Strategy for KETs, which aims to reverse the decline in manufacturing as this will stimulate growth and jobs.

SMART-4-FABRY IN A BRIEF

Smart-4-Fabry has been conceived and created to obtain a new nanoformulation of GLA, that will improve the efficacy and toleration compared to the actual treatment with non-formulated GLA. The final benefit will be seen as considerable reduction on the Fabry disease treatment cost and a substantial improvement in the life-quality of Fabry disease patients.Smart-4-Fabry will impact on a major health problem, the existence of new therapies for rare diseases, which constitutes a priority societal challenge as shown in the H2020 Work Programmes.

Smart-4-Fabry (SMART FUNCTIONAL GLA-NANOFORMULATION FOR FABRY DISEASE) is a collaborative project funded under the H2020 EU Research and Innovation Programme (CALLH2020-NMBP-2016-2017). The project started on the 1st January 2017 and will last four years.

LA MARATÓ DE TV3

La Marató de TV3 is an annual telethon broadcast by Televisió de Catalunya and the Fundació La Marató de TV3 to raise funds for scientific research into diseases which are currently incurable. But La Marató de TV3 is more than just a fund-raising drive. It also informs the Catalan public about these diseases and explains the need for research aimed at preventing and curing them. Just as important as the money raised by the telethon are the scientific publications, the awareness-raising, and public education in scientific questions.

What are rare diseases?

They are diseases that affect at most five people in 10,000. These diseases vary greatly in their nature but all of them are serious, chronic, progressive and disabling.

How many people are affected?

The fact that each one of these diseases affects very few people doesn't mean that they aren't very widespread. The experts reckon that, taken as a whole, rare diseases could affect 7% of the general population. So it is estimated that there are currently around 400,000 people who have one of these diseases in Catalonia, 3 million in Spain and more than 30 million in all of Europe. 

What diseases are they?

Some 7,000 have now been described and they can affect the health of the people who suffer from them in very different ways such as mobility, the nervous or immune system, metabolism or hormonal balance among others. For example: Morquio syndrome is a genetic condition that causes a deficiency in growth and malformations in the thorax and legs. The symptoms normally appear in children aged about two years, although the disease is present from birth. It is a serious and progressive disease that hinders patients' mobility and which has at present no treatment. However, several very hopeful trials are taking place. Another example is giant congenital melanocytic nevus, a skin disease that causes large birthmarks and that predisposes the sufferer to cancer or neuronal conditions. It has no cure. Another is cystic fibrosis. This causes mucosity to build up in many organs of the body such as the liver and lungs, causing respiratory infections and difficulties. It is a very serious disease and at present it is incurable, but the multidisciplinary advances of recent years have greatly improved patients' quality of life. Many of these diseases are identified and diagnosed in childhood, but their incidence is shared 50% in children and 50% in adults. 

What is their origin?

Most rare diseases, approximately 80%, are genetic. This means that the ultimate cause is an alteration of a gene, which is normally inherited from the parents. Thus, many are also hereditary. 

How long do they take to be diagnosed?

As they are so unknown, rare and numerous, sometimes it takes time to diagnose a rare disease correctly. It is calculated that people who are affected wait five and a half years to receive a diagnosis. In an attempt to improve this situation, the European Union, and also Catalonia, have encouraged the creation of networks of hospitals to exchange information and speed up the diagnosis. This commitment is that in 2027 these diseases can be diagnosed in a maximum of one year. 

Can they be cured?

The scientific community point out that during all the years when there is no diagnosis, the patients can't be treated properly. But even when they do have the diagnosis, in many cases no treatment is available. Most of the medicines that are used to treat rare diseases are known as orphan drugs. This is because each of these diseases affects very few people so their cost is very high and sometimes money is not available for them. In spite of the constant breakthroughs, even now 40% of rare diseases have no treatment. They cause 35% of deaths in children under one year and 50% of deaths before the age of 30. It follows that proper treatment could improve the quality and expectancy of life of patients. So, it is important to help research. 

How do they affect people's lives?

Because most rare diseases are disabling they greatly affect patients' quality of life, and also that of their families. Often they are people with problems in many fields of social activity such as school, university or the world of work. For that reason it is important for patients to tell their stories and make them known, to make them visible and normalised. The associations and federations of patients and their families have a very important role. These organisations provide information, psychological and emotional support, and practical help to orientate families in the procedures for provision of services. 

We're out to win!

According to the experts, great breakthroughs have been made in treating and curing many of these rare diseases. To do so, it is very important to be able to detect them at birth and start the appropriate treatment immediately. Currently all babies born in maternity hospitals in Catalonia are given a neonatal test that includes rare diseases. If the test detects any of them in the child, the medical teams proceed to start the treatment that can cure them or curb their development. In the last few years research in gene therapy has advanced greatly. This means introducing functioning genes into the cells to replace those that are functioning badly and causing the disease. There is still a long way to go but, thanks to research, the experts say that in the coming years a lot will be learned about treating and curing even more diseases.

(Information from: https://www.ccma.cat/tv3/marato/en/2019/230/)

If you want to collaborate with "La Marató de TV3", you can donate by calling the phone number 900 21 50 50 (only on Sunday, 15 December 2019), or through the Internet, Bank Transfer, or Bizum: https://www.ccma.cat/tv3/marato/donatiu/

More information:

• Smart-4-Fabry website: http://smart4fabry.eu/
• La Marató de TV3: https://www.ccma.cat/tv3/marato/