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Rare diseases and special care

RARE DISEASES AND SPECIAL

Rare diseases, or uncommon diagnoses, is a generic term for a range of diseases that affect very few people. The European criteria for a disease or diagnosis to be designated as uncommon is that it is present in a maximum of 1 in 2,000 people and leads to disability. In total there are more than 6,000 uncommon diseases and even though each diagnosis is rare, overall there is a large number of people living with a rare disease.

 

Care in connection with rare diseases

These diseases create special needs due to the fact that they are rare, serious, chronic and sometimes progressive. It can be difficult and take a long time to obtain the right diagnosis, to find correct information or obtain a referral to the right specialist doctor. It is not always that effective treatment, or access to it, is available and it can also be problematic and take a long time to obtain social and medicinal care for the disease. For many people, it is difficult to retain their independence and participation in working life, to be able to participate in social contexts and be active in society.  

There is a major need for improved care, diagnostics and treatment in relation to uncommon diseases. Chiesi has focused on increasing knowledge within several rare disease areas.In februari 2020 Chiesi Group annonced the formation of Global Rare Diseases unit, that will harness the full resources of the Chiesi Group to advance research and new product development for rare and ultra-rare diseases. The unit will be headquartered in Boston, Massachusetts and have an initial focus on research and product development in lysosomal storage disorders, rare haematology and ophthalmology disorders.

 

Leber's hereditary optic neuropathology (LHON)

Leber's hereditary optic neuropathology (LHON) is an uncommon, hereditary mitochondrial disease. 1 in 50,000 individuals are estimated to have the disease in the Nordic region, and 1 in 9,000 are carriers. Only women can transmit the predisposition on to the next generation. Not all carriers develop symptoms, and in about 40% of those who fall ill there are no known cases on the maternal side of the family. The risk of developing symptoms is approx. 50% in men and 10% in women. LHON is caused by a change (mutation) in the mitochondria's own DNA, which leads to reduced energy-production in the cells. There are different mutations that can cause LHON and three of them are the most common. LHON patients are affected by selective damage and impaired function in certain cells in the eye's retina and optic nerve, which leads to loss of sight in the central field of vision. One eye is usually affected first and after a few weeks to months the other eye as well. In approximately one quarter of the patients, both eyes are affected at the same time. Loss of vision with LHON is usually pain-free. Onset of symptoms often takes place between the ages of 15 and 35, but can occur at all ages. The diagnosis is based on clinical findings and family history, and is confirmed via genetic testing. If genetic tests for the three most common mutations are normal, an in-depth analysis of mitochondrial DNA can be performed. The risk of developing symptoms, as well as the course of the disease, is affected by genetic, hormonal, life-style and environmental factors, among others. Spontaneous improvement can occur, but more than 90 % of patients develop severe vision loss within a year after onset of symptoms.  Early diagnosis and deployment of treatment is important in order to maximise treatment results. For information about treatment, contact your doctor.

 

ALPHA MANNOSIDOSIS

Alpha Mannosidosis is a rare genetic disease that usually emerges in childhood. Persons who have the disease are completely or partially deficient in the enzyme alpha-D-mannosidase, which means that substances which contain the carbohydrate mannose are stored in the cells instead of being broken down and used normally. This leads to many different organs, the brain, eyes and skeleton for example, being affected and damaged. The degree of severity of alpha mannosidosis varies considerably between different persons with the disease, also within the same family. The disease exists in three forms (mild, moderate and severe), which differ in terms of severity of symptoms and age of onset. The moderate form is most common.  

Everybody who has the disease experiences loss of hearing and many have speech problems and recurrent infections in the ear and upper respiratory tracts. Persons with alpha mannosidosis often have a characteristic appearance, which becomes more prominent over the years. Other common symptoms are impaired muscle tension, difficulties coordinating movements and intellectual disability. If the skeleton is affected, it can lead to pain and diminished mobility. Pain and weakness in muscles and joints also occurs.  

Correct diagnostics have a major significance in selection of treatment and for the patient to have early contact with the specialist doctor needed. The diagnosis is made through various laboratory analyses and is confirmed by DNA-based diagnostics.

The treatment is targeted at ameliorating symptoms, preventing complications and compensating for disabilities. Pain from muscles and skeleton can be treated with analgesic drugs.

For patients with mild to moderate forms of the disease, the possibility exists to add the missing enzyme (so-called enzyme replacement therapy), which can prevent the disease from becoming worse. For some patients, a hematopoietic stem cell transplant has a positive effect on the disease's development. Talk to your doctor if you would like to have more information about treatment of Alfa Mannosidosis.

 

NEPHROPATHIC CYSTINOSIS

Nephropathic Cystinosis is a rare genetic disease which occurs in approx. 1/100 000-200,000 live births. The disease is characterised by accumulation of the amino acid cystins within lysosomes in the cells, leading to damage in many organs and tissues. It is usually detected in early childhood when the patient develops Fanconi syndrome, a serious disorder of the proximal tubules in the kidneys involving substantially increased volumes of urine. This leads to thirst, risk of acute dehydration and excessive secretion of nutrients and minerals such as glucose, amino acids, phosphates, potassium and sodium. The loss of nutrients impairs growth and can lead to soft, bowed bones. Untreated, the disease leads to chronic kidney failure when the child is about ten years old and can then need dialysis or a kidney transplant.

The disease does not just affect the kidneys, but is multisystemic and can also affect, for example, the eyes, muscles and thyroid, as well as cause neurological impairment, muscle deterioration, diabetes, delayed puberty and infertility in men.

Nephropathic Cystinosis is incurable, but the course of the disease can be slowed by administering the enzyme Cysteamine, a so called enzyme replacement therapy (ERT). Talk to your doctor if you would like to have further information about treatment of Nephropathic Cystinosis.

 

SPECIAL CARE

Kidney and liver failure organ transplants

The kidneys perform a number of physiological functions, ranging from filtering the blood and removing waste products to maintaining the electrolyte balance and regulating the production of red blood cells via the hormone erythropoietin. Organ failure means that an organ loses the capacity to perform its physiological functions, and this creates a potential threat to both the quality of life and the survival of the patient. 

 

Chronic kidney failure

The severity of renal impairment is usually quantified through laboratory analyses, ranging from mild (stage 1–2) to serious chronic kidney failure (stage 5). The latter has two possible therapeutic options, either dialysis or transplantation. The first option is a palliative treatment which entails an external machine taking over the kidneys' filtering function. While dialysis is an effective method for the majority of patients, it entails frequent hospital visits for time-consuming and unpleasant sessions. Transplantation entails an operation where a new and functioning kidney (transplanted) is inserted so that the patient recovers the lost function.

 

Liver failure

For patients with liver failure,  the situation is even more complex. A functioning liver is absolutely essential for survival and for patients with severe heptatic impairment there is currently no palliative therapy that corresponds with dialysis treatment for kidney patients. The only therapeutic approach is therefore a transplant. In distinction from renal transplant, the old liver is removed and replaced with a new organ.

 

Transplantation and availability of organs

Two important limiting factors for transplants are availability of organs, which is still considerably lower than demand, and the biological and immunological compatibility between the transplant and the recipient. Physiologically, the immune system protects the body from external pathogens by being able to distinguish between what belongs to the host (own tissue) and what does not (foreign tissue). This mechanism is crucial for the body's capacity to defend a healthy individual, but in patients receiving a transplant from a donor (i.e. foreign tissue), this mechanism leads to the immune system attacking the transplanted organ (rejection).

 

Immunosuppressive drugs

Currently, the standard treatment to prevent organ rejection consists of a combination of immunosuppressive drugs which lowers the immune system's reactivity sufficiently to avoid rejection, but not so much that the risk of opportunistic infections is increased. The treatment is administered for as long as the transplanted organ is functioning. The average survival of a transplanted kidney is about 10 years, while it is slightly less for a transplanted liver. A triple combination of immunosuppressant drugs is currently used after a transplant.

 

Allredy approved text about0 cystisk fibros, for all Nordic languages:

CYSTISK FIBROS (CF)

Cystisk fibros är en ärftlig genetisk sjukdom som innebär att en mutation i CF-genen orsakar förändringar i ett protein kallat CFTR. Detta protein finns i alla kroppens organ och reglerar transporten av natriumklorid och vatten genom cellmembran. Sjukdomen påverkar främst lungorna och bukspottkörteln. I lungorna blir sekretet tjockt och klibbigt, vilket skapar en idealisk miljö för bakterier som Pseudomonas aeruginosa och leder till att den sjuke lättare drabbas av återkommande infektioner och inflammationer. Det kan i sin tur orsaka allvarliga tillstånd som till exempel lunginflammation. Med tiden kan den kroniska inflammationen skada lungvävnaden och försämra andningsfunktionen, vilket är den vanligaste dödsorsaken hos dessa patienter. En infektion kan ge många olika symtom som varierar från person till person och från tid till annan: långvarig hosta, andningssvårigheter, upphostningar av slem, minskad uthållighet vid fysisk aktivitet, dålig aptit, allmän sjukdomskänsla och feber.