The European Union defines a disease as rare if it affects no more than 5 out of every 10,000 people. There are approximately 8,000 rare diseases worldwide. In our country, due to the continued occurrence of consanguineous marriages (one in every five marriages), many rare diseases with genetic transmission and recessive inheritance are more common than in Europe and the United States. It is estimated that around 6-7 million people in our country have rare diseases. In the absence of treatment options, Rare Diseases can lead to chronic, progressive, and life-threatening conditions if early diagnosis and treatment are not applied.
In most cases, rare diseases present a complex clinical picture. Their common feature is often a chronic course. Patients often face challenges and/or have limited life expectancies. Symptoms typically appear in childhood. Approximately 80% of rare diseases have a genetic origin and are generally incurable1.
The Chiesi Group provides treatments for rare diseases in conditions such as alpha-mannosidosis, Leber's hereditary optic neuropathy, and nephropathic cystinosis. The company also secured global rights to a treatment currently in Phase 3 clinical trials for the potential treatment of Fabry's disease through two separate agreements with Protalix Biotherapeutics in 2017 and 2018. In February 2019, Chiesi joined the Corporate Council of the National Organization for Rare Disorders (NORD). In January 2020, Chiesi acquired the worldwide rights to a product for thalassemia treatment from the Canadian company Apotex. Within Chiesi, rare diseases are addressed as a separate business unit under Chiesi Global Rare Diseases.
The Chiesi Global Rare Diseases unit aims to provide innovative treatment options for people living with rare diseases, many of whom have limited or no treatment options available. Currently offering treatments for alpha-mannosidosis, Leber's hereditary optic neuropathy, and nephropathic cystinosis, Chiesi is actively engaged in projects aimed at developing innovative treatments for rare diseases, including lysosomal storage disorders.
Alpha-mannosidosis is a rare genetic disorder and lysosomal storage disease. Currently, it is estimated to affect approximately one in a million people worldwide.
Alpha-mannosidosis arises due to a deficiency of an enzyme called alpha-mannosidase, which plays a role in the cellular breakdown of complex sugar molecules. The deficiency of alpha-mannosidase leads to the toxic accumulation of oligosaccharides in cells of various tissues and organs, including muscles, nerves, and bones.
Depending on the severity of the disease, early-onset hearing impairment, recurrent infections, coarse facial features, skeletal anomalies, and/or learning difficulties may be observed in affected children. In later years, difficulties in walking, muscle and joint pain, and psychological abnormalities may also manifest.
Alpha-mannosidosis is a progressive disease, and most patients require lifelong assistance and symptomatic treatment. In 2018, a new therapeutic approach called Enzyme Replacement Therapy began to be used in Europe. Hematopoietic stem cell transplantation and enzyme replacement therapy can be applied in the treatment of alpha-mannosidosis.
Beta thalassemia is an inheritable and preventable blood disorder passed from parents to children. It is a significant public health issue in Mediterranean countries, including Turkey. The disease can be prevented through the identification of carriers, genetic counselling, and prenatal diagnosis. However, globally, at least 365,000 thalassemia patients are born and undergo treatment each year.
In Turkey, there are approximately 1,300,000 thalassemia carriers and around 4,500 thalassemia patients. You can find more information about Mediterranean anaemia (beta thalassemia) here.
Turkish Hematology Society
