New drug offers hope for rare genetic skin conditions - medtigo



New drug offers hope for rare genetic skin conditions

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A ray of hope shines for patients with rare genetic conditions that cause severe phototoxic attacks after exposure to visible light. A new drug called dersimelagon has shown promising results in treating Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP).

These rare genetic conditions are classified under a group of eight porphyrias and affect around one in every 75,000 to 200,000 white individuals, resulting in elevated levels of metal-free protoporphyrin. When individuals with EPP or XLP are exposed to sunlight, protoporphyrin in their blood vessels becomes activated, which triggers inflammation, cell damage, and severe pain, making going outside a challenging experience for people with these conditions. 

This was a randomized, placebo-controlled, phase 2 trial study with 102 patients aged 18 to 75. During the study, patients were randomly assigned to receive dersimelagon at 100 or 300 mg once daily for 16 weeks or a placebo. The focus of the study was to evaluate the alteration in the duration between the onset of sunlight exposure and the first prodromal symptom associated with it from the baseline to week 16. Patients recorded their daily sunlight exposure and symptom data in an electronic diary, and their quality of life and safety were also assessed.

The results showed that dersimelagon significantly increased the duration of symptom-free sunlight exposure in patients with EPP or XLP. The average duration between the first prodromal symptom related to sunlight exposure was observed to have significantly increased in patients who were administered dersimelagon.  

Kirstine Belongie, Ph.D., and colleagues from Mitsubishi Tanabe Pharma Development America in Jersey City, New Jersey, reported in the New England Journal of Medicine that the study showed a significant increase in the duration of symptom-free sunlight exposure in patients with erythropoietic protoporphyria or X-linked protoporphyria who received dersimelagon compared to those who received the placebo. Moreover, the quality of life was better for patients on dersimelagon, and the drug was well-tolerated with a few mild adverse events such as nausea, freckles, headache, and skin hyperpigmentation. 

Dersimelagon works by increasing the levels of skin eumelanin through its selective activation of the melanocortin-1 receptor. Eumelanin is the pigment responsible for skin tanning and provides some protection against UV radiation. The drug’s mechanism of action suggests that it may be effective in treating other photodermatoses, such as vitiligo, which is also a condition characterized by a lack of melanin. 

After the promising phase 2 trial results, dersimelagon has shown its potential as a promising treatment for EPP and XLP, rare genetic conditions that cause significant discomfort to patients. The drug significantly increases the duration of symptom-free sunlight exposure and improves the quality of life of patients. With its mechanism of action, dersimelagon may potentially treat other photodermatoses.

Further research is needed to confirm these findings and assess the long-term safety and efficacy of the drug. However, the innovative work of scientists and researchers in developing new and effective treatments is a positive step for patients suffering from these conditions. 


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