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The term “rare disease” applies to those diseases affecting a limited number of people with a prevalence below a given cut-off point – in EU the threshold at 0.05% of the population, i.e. a disease affects less than 5 in 10,000 people in the EU; in the EU the number is estimated at 30 million. In 2005, approximately 2700 patients were registered in Slovakia. Up to 8,000 rare diseases exist worldwide

Rare diseases create specific problems relating to their rarity, such as a diagnosis, obtain information or receive a referral to consult competent specialists; they are serious, often chronic and at times progressive, and may appear at birth or during childhood. Around 80% of rare diseases have genetic origins or are in part due to genetic damage, and they are not curable.

It is equally difficult for patients to access effective treatment, receive social and medical care for the disease, coordinate basic treatment with that provided by hospitals, and maintain their autonomy and social, professional and civic inclusion.

This explains why we focus particularly on treatment and assistance for rare disease sufferers, whose survival is potentially at risk

We are dedicating our efforts to the treatment of these rare diseases:

 

Cystic fibrosis

Cystic fibrosis is an autosomal recessive hereditary genetic disease. A mutation of the CF gene causes an alteration in a protein called CFTR, which is present in all the organs and regulates the exchange of sodium chloride and water through cell membranes. The organs most affected by the disease are the lungs and the pancreas; the mucus secretion is stick and thick, thus helping to create the ideal environment for the development of bacteria such as Pseudomonas aeruginosa, meaning that sufferers are prone to recurrent infections and inflammation. Chronic inflammatory processes can damage lungs tissue over the course of time and subsequently lead to impaired respiratory function. The symptoms of chronic lungs infection are numerous: persistent cough, breathing difficulties, expectoration, reduced stamina for physical activity, loss of appetite and others.

(Bramitob®; Quisair®)

 

Limbal stem cell deficiency (LSCD)

The transparency of the cornea is absolutely essential for clear vision. Corneal cell renewal and repair are dependent upon the cells present in the limbus, which is found in a small area of the eye between the cornea and the conjunctiva (between the transparent cornea and the sclera). In the case of thermal or chemical burns to the eye, the part of the limbus can be destroyed - the cornea is covered by a different not transparent tissue. The result is in subsequent loss of vision.

Our therapy is based on cultures of limbal cells taken from the patient, which, once they have successfully grafted, regenerate the corneal epithelium and restore its functions. Limbal cell cultures even allow the possibility of treating patients with a loss of corneal epithelium in both eyes, provided that a small portion of limbus remains in one of the eyes.

(Holoclar®)

 

Chronic alpha-mannosidosis

Alpha-mannosidosis is a rare and serious hereditary genetic disease resulting from an enzymatic deficiency which causes a build-up of lysosomal enzymes. The disease is generally found in two forms which differ in severity of symptoms and age of onset, and appears either at birth or during early childhood. Its incidence stands at about 1 case for every 500,000 newborns

Some children are already born with malformations or develop them in their first year, whereas others often do not appear to have problems at birth, but their condition then progressively worsens. The main symptoms of the disease include immunodeficiency, skeletal abnormalities, deafness, gradual impairment of mental and linguistic functions and, often, episodes of psychosis

Our goal in the future is to provide a therapy that will replace the missing enzyme.

(Lamzede ®- registration process)