The European Union defines a disease as rare if it affects no more than 5 in 10,000 people in the EU. Up to 8,000 rare diseases exist worldwide. Around four million people live with a rare disease in Germany alone; in the EU the number is estimated at 30 million.
In most cases, rare diseases present a highly complex clinical picture. One thing that they have in common is a typically chronic progression. Sufferers are frequently affected by disabilities and/or have a limited life expectancy. Symptoms generally appear in childhood. Around 80% of rare diseases have genetic origins or are in part due to genetic damage, and they are seldom curable.
CHIESI DEDICATES ITSELF TO THE FOLLOWING RARE DISEASES
Alpha-mannosidosis is a rare genetic disorder and a lysosomal storage disease. It is estimated that one in 1,000,000 people worldwide are currently affected.1 Alpha-mannosidosis is caused by an absence of alpha-mannosidase, an enzyme involved in the cellular breakdown of complex sugar molecules. The lack of alpha-mannosidase leads to the toxic accumulation of oligosaccharides in the cells of many tissues and organs such as muscles, nerves, bones or joints. Depending on the severity of the disease children may have an early onset of hearing impairments, recurrent infections, facial coarsening, skeletal abnormalities and/or learning difficulties. In later years, difficulties with walking, muscle and joint pain and psychological abnormalities may also occur. In general, the symptoms vary which complicates the diagnosis. Alpha-mannosidosis is a progressive disease. Many patients need assistance during their lifetime.1,2,3,4 Most patients are only treated symptomatically. Fortunately, in July 2018, a new therapeutic approach called Enzyme replacement therapy became available. It replaces the missing and dysfunctional enzyme alpha-mannosidase. Enzyme replacement therapy can affect the disease progression positively; this means, that: the earlier patients are diagnosed and treated, the higher the chances of benefiting from the therapy.
For further information about the symptoms, progression and diagnosis of alpha-mannosidosis watch our video clip. In the clip Prof. Dr. Julia B. Hennermann, an expert in pediatric metabolic diseases and Prof. Dr. Dag Malm, who has significantly contributed to the study of the disease and is the father of two affected daughters, gives you a comprehensive overview of alpha-mannosidosis.
Cystic fibrosis is another rare disease. It is an autosomal recessive inherited disease in which the body’s exocrine glands do not work correctly. They produce chemically altered, sticky secretions that clog up the various ducts, especially those in the lungs and pancreas. Other organs can also be impaired in their function. Typical symptoms of this disease include chronic cough, frequent lung infections, abdominal pain, chronic diarrhoea, digestive issues and being underweight. Around 8,000 people in Germany suffer from cystic fibrosis and around 200 children are born with the disease every year.
Limbal stem cell deficiency (LSCD)
A clear, intact cornea is absolutely essential for clear vision. As the “window of the eye” and its outermost part, the cornea completely renews itself every seven to nine days. This is the job of stem cells, which ensure that the cornea regenerates continuously. These stem cells are found in the limbus, the transition zone between the transparent cornea and the sclera. If this area becomes damaged as the result of an injury, this is referred to as limbal stem cell deficiency (LSCD). Sufferers endure pain and photosensitivity as well as impaired eyesight. In the worst cases sufferers can even lose their sight entirely. Around 3.3 in 100,000 people in the EU are affected by LSCD.
It is hoped that stem cell therapies will bring about significant improvements in future.
TYPES OF THERAPY
Stem cell therapy
Stem cell therapy is a treatment method that utilises stem cells. Whilst normal cells that are capable of division can only yield cells of the same type, stem cells do not have a fixed function in the body and have the ability to develop into different types of cells and tissue. At the same time, they create daughter cells that in turn possess the characteristics of stem cells.
This remarkable ability is what makes stem cells so interesting in medical applications. Stem-cell-based therapies aim to replace, repair or support the regeneration of the patient’s damaged cells or tissue, for example, in cancers such as leukaemia, neurodegenerative disorders and degenerative diseases, e.g. of the bones, cartilage and connective tissue. Stem cells are found in embryos, foetuses and have been proven to exist in many organs in the human body. Depending on where the stem cells originate, we differentiate between embryonic (from an embryo), foetal (from a foetus) and adult (taken from a human body after birth) stem cells.
SUPPORT AVAILABLE TO PATIENTS
National Action League for People with Rare Diseases (NAMSE)
On the initiative of the German Federal Ministry of Health (BMG) and in partnership with the German Federal Ministry of Education and Research (BMBF) and the Alliance for Chronic Rare Diseases (ACHSE e.V.), the National Action League for People with Rare Diseases (NAMSE) was founded as an umbrella group for self-help organisations in the field of rare diseases.
NAMSE has submitted a total of 52 policy proposals to improve the health situation of people with rare diseases and has brought these together in its National Plan of Action for People with Rare Diseases. The national action plan is designed to address the most urgent issues faced by sufferers and their families, with the aim of providing better information to medical personnel as well as to sufferers and their families. Medical care structures should be expanded and competencies bundled in specialist centres. Additionally, there should be more research into rare diseases.