Endometriosis is a chronic inflammatory disease affecting women of childbearing age worldwide. The condition is widespread, but many sufferers have to wait a long time to receive a correct diagnosis. Today, approximately 10 percent of all women of childbearing age live with endometriosis. In the US and the five largest Western European countries alone – Germany, Italy, Spain, the UK and France – this corresponds to approximately 16 million patients. In Sweden, approximately 200,000 women live with endometriosis, of which 10 percent or more are teenagers. Endometriosis seriously affects many women’s everyday life over many years, and the disease also has a large general impact on society. There is an urgent need for new effective treatments.
The cause of endometriosis has not been established, but according to a common theory, the disease is thought to arise during menstruation when the body rejects the cells that make up the outermost layer of the uterine lining. Some of these cells then incorrectly go backwards through the fallopian tubes, towards the ovaries and the pelvic and abdominal cavities. Here the cells attach to the underlying tissue and give rise to endometriotic lesions.
The most common symptom is severe pain associated with menstruation. A majority of patients describe also experiencing severe pain in connection with ovulation; pain during intercourse or when going to the toilet is also common. The intense pain causes major limitations in everyday life and negatively affects the quality of life, especially as the pain can become chronic over time. The disease also affects mental health through depression and extreme fatigue. In the long term, the lesions may cause abdominal adhesions that can complicate future surgery.
Around 30-50 percent of women with endometriosis suffer from reduced fertility. Often, the disease is first confirmed in connection with an infertility investigation.
Despite great efforts currently being made to understand endometriosis better, the general disease knowledge within the healthcare system is relatively low, and the time to diagnosis may be long. Gynecological examination with ultrasound or magnetic resonance imaging (MRI) can be helpful in the diagnosis of endometriosis, but a definitive diagnosis requires tissue samples obtained via laparoscopy.
There is currently no cure for endometriosis. Available treatments are various types of hormone-regulating or pain-relieving drugs. Hormone regulation has proven effective for symptom relief and treatment and is frequently achieved with regular hormonal contraceptives. However, these can have side effects. Anti-inflammatory drugs (NSAIDs) are often used to counteract the pain and reduce the inflammation, but with long-term treatment there is a risk of gastritis. Another form of treatment is surgery, usually in the form of laparoscopic procedures to remove the endometriosis lesions. However, new lesions often appear within a few years and may require repeated interventions. The need for effective treatments with high precision is therefore still great.
Systemic sclerosis, also known as scleroderma, affects around 2.5 million persons globally. A majority of patients are women. In the major markets – the U.S., Germany, France, Italy, Spain, the UK, and Japan – approximately 240,000 people are affected. In Sweden, about 2,000 people are diagnosed with systemic sclerosis. About half of all patients develop painful, difficult-to-heal digital ulcers that significantly impede everyday activities. Pulmonary arterial hypertension (PAH) and interstitial lung disease (ILD) are other examples of complex chronic complications that are commonly observed in systemic sclerosis patients. PAH, as an example, arises due to widespread injury in the microvasculature of the lungs and may lead to increased mortality.
Learn more about systemic sclerosis under “further reading” below.
In the early stages of systemic sclerosis, sudden episodes of decreased blood flow may occur in the fingers and toes, leading to discoloration, pain, and impaired fine motor skills. These episodes are known as Raynaud’s phenomenon and are seen in almost all patients with systemic sclerosis. While such episodes can also occur in otherwise healthy individuals, they affect systemic sclerosis patients more often, are more pronounced, and may lead to severe pain on a daily basis. About 95% of all systemic sclerosis patients suffer from Raynaud’s phenomenon, and as the microvascular damage progresses, the lack of proper blood flow may give rise to digital ulcers.
About half of all patients with systemic sclerosis develop ulcerations of the fingers and toes, digital ulcers. These injuries are difficult to heal and cause extreme pain. Unfortunately, the number of approved pharmacological treatments is extremely limited and may carry adverse effects. Due to the location of the ulcers, everyday activities such as taking a walk, opening a car door, putting on gloves or using a computer keyboard become almost impossible. The demand for efficacious and safe treatments that can reduce pain and improve patients’ quality of life is therefore large.
Available treatments of chronic microvascular dysfunction in systemic sclerosis provide insufficient efficacy and may cause adverse effects. To date, there are no approved products for the treatment of digital ulcers in the U.S., and only two in Europe – the prostacyclin analog iloprost and the endothelin receptor antagonist bosentan. However, neither provides optimal efficacy or tolerabilty. The lack of safe and efficacious drugs with a specific effect on digital ulcers has led to the use of drugs intended for the treatment of other indications. The use of these regimens is often constrained by dose-limiting side effects and the efficacy is often limited.
References to key academic papers, patient advocacy organization websites or company documents available for sharing.
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Systemic sclerosis is an autoimmune disease hallmarked by chronic inflammation in the body’s smallest blood vessels.
Endometriosis is a chronic, inflammatory, estrogen-dependent disease affecting millions of women worldwide.
Our lead drug candidate GS-248 is currently under evaluation in a phase 2 study.