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.
At Chiesi, a separate business unit is dedicated to rare diseases, Chiesi Global 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.
Cystinosis, also called "cystinosis" or "cystine storage disease" is a rare, genetically determined lysosomal storage disease. In Germany, approximately 200 people are affected by cystinosis. Every year, about three to seven babies are born with cystinosis in Germany. The cause is a genetic defect. This leads to crystal deposits in the cells of various organs and tissues, which impair cell function. The kidney is most affected. Already in the first months of life the disease leads to increased urine excretion, thirst and growth disturbance.
Early diagnosis and therapy are crucial for the course of the disease. Although drug therapy cannot prevent a necessary kidney replacement therapy such as dialysis or kidney transplantation, it can significantly delay it. Cystinosis also leads to crystal deposits in other tissues and organs, so that consistent therapy is also indispensable after a kidney transplant.
Pape et al., Pädiatrische Nephrologie, 3/2017
LHON is a rare, chronic optic nerve disease, which can lead to a pronounced deterioration of vision within one year and later to blindness. It is inherited on the mother's side. Worldwide, the incidence is currently between 1:15,000 and 1:50,000. The first noticeable deterioration in vision usually occurs in adolescence and early adulthood. LHON is characterized by a sudden painless reduction in visual acuity, first in one eye and within a short time in the second eye. Typical is also a reduction of vision in the middle field of vision.
Thalassemias are diseases in which a genetically determined disorder of the formation of the red blood pigment, haemoglobin, occurs. In Germany and Central Europe, the β(beta) thalassemias are of particular importance. It is estimated that approximately 160,000 people in Germany currently live with ß-thalassemia minor, the less severe form of ß-thalassemia, and approximately 500 patients with the severe form, ß-thalassemia major. ß-thalassemia major causes severe anaemia in the first year of life. Signs of anemia are increasing paleness, yellowing of the skin (icterus), rapid fatigue, unwillingness to drink and growth disorders, rapid heartbeat and enlargement of the liver and spleen. To avoid serious complications, patients usually require regular blood transfusions for the rest of their lives.
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.
You can also find more information on the pages of the German Federal Ministry of Health.