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