FDA approved the first drug for rare skin disorder- Erythropoietic protoporphyria

FDA approved the first drug for rare skin disorder- Erythropoietic protoporphyria

Exposure to sunlight is very painful for patients who suffer from erythropoietic protoporphyria-an extremely rare skin disorder. Previously there was no such medicine available for the treatment of the disorder. The people with erythropoietic protoporphyria were unable to expose themselves to direct sunlight.

Now the U. S Food and Drug Administration(FDA) has approved a drug, Scenesse (afamelanotide). The drug increases the duration of the exposure of the body to the sunlight without any pain in the patients who have a history of phototoxic reactions for the erythropoietic protoporphyria.

Erythropoietic protoporphyria is due to mutation in the gene

Erythropoietic protoporphyria is a rare skin disorder that takes place due to mutations in the gene. It impairs the activity of an enzyme, Ferro Chelatase, that works in the heme production. Heme is a vital and structural component of the hemoglobin molecule, that transports the oxygen to different body parts. A lack of this enzyme leads to the deposition of protoporphyrin IX(PPIX) in the body.

During the exposure to light, a reaction initiates with PPIX which makes the skin pale in color and induces other changes in the skin like redness, thickening, etc. The drug, Scenesse stimulates the synthesis of Eumelanin in an abundant amount by exposing the body to direct light. The drug uses a subcutaneous administration on a patient’s skin.

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To check the efficiency of drug we prepared the two-parallel groups having the disease, erythropoietic protoporphyria for the clinical trials. The patients received the drug, Scenesse for every two months. In the first group out of 93 patients, 48 received the drug and were observed for 180 days. The second group included 74 patients, out of the 38 received the drug and then followed up for 270 days. During the follow up the main conclusion was the maximum number of hours spent in the direct sunlight with no pain.

Common side effects of the drug

The most common side effects of the drug include implant site reaction, oropharyngeal pain, cough, fatigue, nausea, skin hyperpigmentation, dizziness respiratory tract infections, melanocytic nevus, and skin irritation. It may darken the skin, so the full body examination requires after six months i.e. two times in a year. During the treatment, health care professionals give precautions to the patients for sunlight exposure to avoid any phototoxic reaction.

FDA granted this application as a step forward therapy and Priority Review designation and the drug also received Orphan Drug designation, which is an appreciation for the development of drug for rare diseases.

For the protection of public health, there is an agency in the U.S department of health and human services, the FDA that ensures the effectiveness, safety, and security of human and veterinary drugs, vaccines, other biological products, and medical devices.







The author is a Medical Microbiologist and healthcare writer. She is a post-graduate of Medical Microbiology and Immunology. She covers all content on health and wellness including weight loss, nutrition, and general health. Twitter @Areeba94789300

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