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Rare Disease is any pathology that affects a small percentage of the population. In Europe, we talk about Rare Disease when it affects 1 per 2,000 citizens (5 out of 10,000,FEDER) [1]. Ultra-rare diseases are also those affecting less than 1 per 50,000 inhabitants [2].

Rare diseases affect patients in their physical abilities, mental abilities and their sensory and behavioral qualities. Most are hereditary, have a chronic clinical course and are progressively debilitating [1].

If rare disease is diagnosed early and therapeutic treatment is available, some diseases are compatible with an acceptable quality of life. However, they often have a high diagnostic complexity. This is one of the main problems faced by people affected by a rare disease. Since the appearance of first symptoms to obtaining diagnosis, an average of 5 years elapses. Difficulty and delay in diagnosis is added to the fact that there is an available treatment to curb the course of disease or to improve quality life of patients..

[1] https://www.enfermedades-raras.org/index.php/enfermedades-raras/preguntas-frecuentes
[2] http://aelmhu.es/index.php/actividades/noticias/item/648-la-oms-ha-identificado-5-000-enfermedades-raras-sin-contar-las-ultrarraras
[3] https://www.eurordis.org/es/enfermedades-raras

The number of Europeans affected by a rare disease is 30 million. In Spain, the number of patients exceeds three million. In 65% of cases, these pathologies are serious and invalidating, and 1 in 5 patients suffer chronic pain. Another worrying figure is 80% have a genetic origin, so they are present in the moment of birth. Hence, up to 30% of those affected die before the age of five [1].

Despite the magnitude of the problem, rare diseases and patient needs remain large ignored. The figures express for themselves: in the world there are between 7,000 and 8,000 Rare Diseases (7% of the world's population) [4] and there are only 102 medicines destined for these pathologies, in many cases treatments available are for the same pathology so it is reduced the scope of action. In Spain, only 62 [6] of the 102 orphan drugs approved by the EMA are marketed [5].

[1] https://www.enfermedades-raras.org/index.php/enfermedades-raras/preguntas-frecuentes
[2] http://aelmhu.es/
[3] http://www.farmaindustria.es/web/otra-noticia/el-11-de-los-ensayos-clinicos-promovidos-por-la-industria-en-espana-es-ya-sobre-patologias-poco-frecuentes/
[4] https://enfermedades-raras.org/index.php/enfermedades-raras
[5] https://www.eurordis.org/es/designaciones-de-medicamentos-huerfanos-y-autorizaciones-de-mercado
[6] Datos 2018 de la actualización del Estudio Necesidades Sociosanitarias de las Personas con Enfermedades Raras y sus Familias (ENSERio)

There are between 7,000 and 8,000 Rare Diseases (7% of the world's population) in Europe, and there are only 102 approved orphan drugs destined for some of these diseases.

In Spain, patients with rare diseases can only access 62 of the 102 orphan drugs available in Europe.

The big challenge from Chiesi is help to find solutions through research and development, as well as working with patient associations and healthcare professionals to improve underdiagnosis.

Approaching to rare diseases

Discovering a medicine that contributes to improving the quality of life of people with a Rare Disease is a scientific milestone and one of the greatest satisfactions for a pharmaceutical company.

Hence, one of our priorities in terms of research and development is to make innovative therapies available to people with rare diseases.

Because the fact that these are infrequent conditions is not a brake for us, but a motivation.
One of our most urgent objectives is to promote awareness of these pathologies to end the existing underdiagnosis. To achieve this, we offer our support to those patient associations that work tirelessly to give visibility to this group. From Chiesi, we bet because the more we are raising our voices to publicize these pathologies, the more scope we will have.

For your interest:
El récord de llegar a primero de FP con una enzima de menos
De Benito, E. (2018, octubre 6. El récord de llegar a primero de FP con una enzima de menos. El País. Recuperado de https://elpais.com/sociedad/2018/10/02/actualidad/1538502893_920213.html
Chiesi Milestones in Rare Diseases
Chiesi currently invests 22% of its annual R&D result. And part of this percentage goes to the Rare Diseases R&D area.
  • 2008
  • 2012

    Approval of alipogene tiparvovec (Glybera®)

    The approval of Glybera® by the European Medicines Agency (EMA) was a milestone in the first authorised gene therapy in the world. Glybera® is an injectable drug that works by inserting genes into the body. It is used to treat lipoprotein lipase deficiency in adults who have severe attacks of pancreatitis (inflammation of the pancreas) despite maintaining a low-fat diet.

  • 2013

    Acquisition of Zymenex

    Chiesi acquires Zymenex, a biopharmaceutical group focused on research and development of innovative biological therapies for the treatment of rare and life-threatening genetic diseases. This acquisition includes Lamazym ™ (rhLAMAN), a Phase III recombinant enzyme indicated for use in the treatment of patients with alpha-manidosidosis.

  • 2014

    Approval of Holoclar, first EMA-approved stem cell therapy

    The EMA announced Holoclar's approval on 19 December. This treatment repairs damage to the surface of the eye due to contact with substances such as acid or some types of paints and detergents. It was the first time the European Union had approved stem cell therapy.

  • 2015

    First patient to receive Glybera®

    In September 2015, Dr. Elisabeth Steinhagen-Thiessen administered Glybera® a 43-year-old German patient with lipoprotein lipase deficiency. The treatment, carried out at Charite Hospital in Berlin, was a success.

  • 2017

    Buying Procisby's rights

    In June 2017, Chiesi acquired Procysbi (cysteamine bitartrate), indicated for nephropathic cystinosis, a rare genetic condition that affects approximately 2,000 people worldwide.

  • 2018

    Lamzede approval®

    In April, the European Commission authorized the marketing authorization of Lamzede (velmanase alfa), the first substitute enzyme treatment to control non-neurological manifestations of patients with mild to moderate forms of alphamanosidosis, a progressive and debilitating ultra rare disease.

Entre los Hitos de la historia de EMA
On the occasion of its 20th anniversary, the European Medicines Agency (EMA) released a book detailing its main milestones.
The publication highlights the satisfaction of having approved medications to meet the needs of Rare Disease patients. Among them, the EMA recognizes the contribution of Chiesi with the first gene therapy in 2012 and the first stem cell therapy in 2014.
This recognition has come to reinforce the firm commitment that we make from our R&D area for advanced therapies in the area of ​​rare diseases.
More info
Beyond the pill...
At Chiesi we believe it is essential to help make rare and ultra-rare diseases visible.. That is why we take an active role in the dissemination of pathologies where we can provide a therapeutic solution.

Another axis of our strong commitment is to undertake initiatives that recognize the work of professionals and patient associations who fight and work daily to improve the lives of those with a rare disease. Hence our full support to the Spanish Federation of Rare Diseases (FEDER), the MPS Association and Related Syndromes, Association Cystinosis Spain, among others.
Rare Chip
Rare CHIP (CHiesi Innovation Program) it is an innovation project whose objective is to identify and respond, in an innovative and different way, to the challenges, barriers and needs that we are currently in the area of rare diseases.
More info
Se Busca Enzima
The #SeBuscaEnzima campaign is an initiative of MPS with the collaboration of Chiesi through which it aims to make alphamanosidosis a widely known disease, make visibility of the capacities and value that people diagnosed with alpha-manosidosis have, and break with the prejudices that currently exist in society.

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