The term rare applies to those diseases affecting a limited number of people with a prevalence below a given cut-off point, which is codified by the legislation of each individual country. The EU sets this threshold at 0.05% of the population, i.e. one case for every 2,000 inhabitants (in the US a disease is considered rare when it has been diagnosed in fewer than 200,000 sufferers in the population, i.e. about 0.08%).
Rare diseases create specific problems relating to their rarity, are serious, often chronic and at times progressive, and may appear at birth or during childhood.
All those affected by rare diseases find it hard to reach a diagnosis, obtain information or receive a referral to consult competent specialists. It is equally difficult for them 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. Our commitment concentrates in this field as we believe this therapeutic area to be of great importance and social impact.
We are dedicating our efforts to the treatment of three rare diseases:
Lipoprotein lipase or LPL is an enzyme naturally occurring in the body, and in particular in capillary endothelial cells, which is involved in the metabolism of triglycerides. These fat molecules, which represent a source of energy for the body’s cells, derive in turn from VLDL lipoproteins and chylomicrons. In lipoprotein lipase deficiency, a genetic defect means that the production of this enzyme is absent or insufficient. Those affected by this extremely rare disease are unable to effectively metabolise fats in the blood and are therefore exposed to the risk of acute pancreatic inflammation (pancreatitis). Acute pancreatitis is a serious, extremely painful and potentially fatal condition. Further long-term complications of LPL deficiency include diabetes and cardiovascular diseases.
Alipogene tiparvovec is the first gene therapy approved in Europe and currently represents the only treatment option for adult patients diagnosed with lipoprotein lipase deficiency (LPLD). Alipogene tiparvovec enables sufferers to correctly produce the LPL enzyme, thus reducing the risk of complications and in particular that of acute pancreatitis. The drug is administered in a series of intramuscular injections. Patients must be treated in special centres of excellence and by specially trained doctors.
The transparency of the cornea is essential to ensure the ability to see properly. 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.
Thermal or chemical burns to the eye can destroy the limbus, causing a deficiency of limbal cells. If this happens, the cornea is covered by a different epithelium following an invasion of cells from the conjunctiva. This process renders the cornea opaque and results in subsequent loss of vision, and conventional corneal transplant is an ineffective treatment in such cases.
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.
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.
Through the acquisition of Zymenex, a Scandinavian biotech company, we intend to provide an answer to this serious condition with a therapy which replaces the missing enzyme, thus acting upon the cause of this disease.