Rare diseases gsk germany

Rare diseasesAround four million people in Germany suffer from a rare disease. "Rare disease" means that no more than five out of 10.000 people are affected. In total, there are around 6.000 such diseases, many of which are congenital metabolic disorders. Unlike the major common diseases, research efforts in this area have been rather modest. At GlaxoSmithKline, things are different: for years, clinical research has also included the search for drugs to treat extremely rare diseases. In 2005, a "Rare Diseases Unit" was established specifically for this purpose Founded to focus exclusively on rare diseases, addressing the needs of patients in desperate need of new medicines.

Pulmonary Arterial Hypertension (PAH)

Pulmonary arterial hypertension (PAH) or colloquially also "pulmonary hypertension PAH (pulmonary arterial hypertension) is a rare disease of the pulmonary arteries. The incidence of the disease is estimated to range from 2.6 to 26 cases/million. Each year, 1.1 to 7.6 people/million develop new cases of PAH. PAH affects people of all ages, ethnicities and genders. More women than men are affected.

Pulmonary hypertension leads to death without treatment. The disease causes the pulmonary vessels to narrow and change, increasing the prere in the pulmonary arteries. The right heart has to pump against this increased prere and enlarges. Patients become increasingly short of breath and eventually die of right heart failure. The disease can occur at any age, even in young people. PAH often begins with no apparent cause, but it can also occur in conjunction with other conditions – such as heart problems, connective tie disease, cirrhosis of the liver or HIV infection.

Until recently, the median life expectancy after a PAH diagnosis was only 2.8 years, without specific treatment. However, recent data indicate that improved diagnosis and treatment methods for PAH have significantly increased survival rates in recent years. GSK introduced a drug in 2008 that can be used to treat pulmonary hypertension. In 2011, a second drug from a different class of active ingredients was added to the list. In a groundbreaking study in 2014, it was shown that administering both drugs together from the start can have a favorable effect on the course of the disease.

Eosinophilic granulomatosis with polyangiitis (EGPA)

Eosinophilic granulomatosis with polyangiitis, abbreviated as EGPA and formerly known as Churg-Strauss syndrome, is a very rare chronic disease that belongs to the rheumatic group of diseases. In EGPA, the level of a certain type of white blood cell, eosinophils, is elevated in the human body. Eosinophils are essentially responsible for a good immune response. However, in EGPA sufferers, their numbers increase excessively and inflammatory reactions occur in small and medium-sized blood vessels, a condition known as vasculitis. 1,2 This can cause permanent damage to the affected organs. 3 Eosinophilic granulomatosis with polyangiitis can occur at any age. For every 1 million people, about 11-18 cases are reported each year. 1,4

In EGPA, patients typically develop asthma in adulthood often accompanied by allergic inflammation of the nasal mucosa (rhinitis), inflammation of the sinuses (sinusitis) and/or nasal polyps. A second phase develops very high levels of eosinophils in the blood and/or ties, followed by a third phase of vascular inflammation/vasculitis, but this does not occur or is detectable in all patients. EGPA can affect all organs and cause damage to, for example, the lungs, sinuses, skin, heart, gastrointestinal tract, or nervous system. 2,3,5 The burden of disease can therefore be very high, severely limiting affected individuals in their daily lives and quality of life. Common symptoms, which can vary in severity, include extreme fatigue, muscle and joint pain, weight loss, upper respiratory tract symptoms, and shortness of breath. For some affected individuals, especially if left untreated, EGPA can become life-threatening. 6

At this time, there is no cure for EGPA. However, patients may experience what is known as remission, d.h. a permanent or temporary remission of symptoms, but relapses are unfortunately common. The current treatment approach is based primarily on reducing active inflammation and suppressing the exuberant immune response through the use of corticosteroids and concomitant immunosuppressive therapy. In addition to these more nonspecific therapeutic approaches, innovative, targeted medications can also be used.

At the age of eleven, Dimitra developed eosinophilic granulomatosis with polyangiitis (EGPA) – also known as Churg-Strauss syndrome. She was in an induced coma for 10 days. It was only after more than two years of suffering that she was diagnosed with the rare disease. This video shows how this young woman, who is active today, experienced the difficult time before her diagnosis and how she now lives and deals with the disease.

1 Furuta S, et al. Allergol Int. 2019;68:430-436. 2 Vaglio A, et al. Arthritis Rheum. 2007;56:3159-66. 3 Baldini C, et al. Rheum Dis Clin North Am. 2010;36:527-543. 4 Pagnoux C, et al. Curr Opin Rheumatol. 2007;19:25-32. 5 Greco A, et al. Autoimmune Rev. 2015;14:341-348. 6 Jakes RW et al. Clin Rheumatol. 2021 Dec;40(12):4829-4836.

Hypereosinophilic syndrome

Hypereosinophilic syndrome is a rare inflammatory disease. Its estimated prevalence is about 7.000 patients within the European Union. The cause of the syndrome is largely unknown.

HES patients present with persistent and marked elevation of eosinophils in the blood. Eosinophils are a specific type of white blood cell. Thus a natural component of the human immune system. However, if they are highly elevated, they can cause inflammation and organ damage in body ties. Symptoms vary widely depending on specific organ involvement. Often more than one organ is affected. Complications can therefore range from symptoms such as fever and fatigue to severe cardiovascular problems and respiratory impairment. If left untreated, the clinical manifestations of HES progressively worsen and the syndrome can become life-threatening.

At the current time, hypereosinophilic syndrome is not curable. The goal of HES treatment is to control symptoms and prevent further organ damage. It is important to lower the level of eosinophils in the blood, reduce active inflammation, suppress the excessive activity of the immune system, and treat disease-specific and/or treatment-related complications. For the most part, nonspecific drugs, such as glucocorticoids, immunosuppressants, and cytostatics, are used for this purpose. In addition, innovative treatment methods are available that specifically intervene in the course of the disease and thus slow it down.

References 1 ShomaliW, GotlibJ. Am J Hematol. 2019;94(10):1149-1167. 2 Klion A. HematologyAm SocHematolEducProg. 2018(1):326-331.

rare diseases gsk germany

respiratory tract

GSK has been producing respiratory medicines for more than 50 years to provide the best treatment for patients worldwide.

rare diseases gsk germany

Bacterial/parasitic infections

GSK is one of the leading manufacturers of antibiotics for bacterial and parasitic infections.

rare diseases gsk germany


Through intensive research, GSK has achieved great success in the treatment of lupus in recent years.

Rare diseases gsk germany


In the field of oncology, GSK aims to improve medical care for patients through innovative medicines.

NP-DE-PAU-DPK-210001, Feb21 / NP-DE-MPL-WCNT-220002, Feb22 / NP-DE-MPL-WCNT-220001, Feb22

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