The results of a clinical diagnosis suggest that a drug may help with a & # 39; protecting skin and preventing vision problems – ScienceDaily



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The National Eye Institute (NEI) has a small clinical clinical survey that suggests that the drug nitisinone is a drug; Increasing melanin production in some people with albinism type 1B (OCA-1B), rare genetic disease that causes skin and light hair and bad sight. Melanin expansion can help to protect people with the situation against the UV rays of the sun and its; promoting the development of a standardized Inspection results were published JCI InsightThe NEI is part of the National Institutes of Health (NIH).

"Given the vision problems for people with albinism that occur in the early morning, our aim is to work with babies," said Brian Brooks, MD, Ph.D., director the NEI clinical and the managing author of the Post Office "The purpose of this pilot investigation is to investigate a safe nitisinone and can signal that the drug is working. "

Uncertain albinism (OCA) is a rare disease that is converted to disease in a genital that requires melanin, a dark piece found in hair, skin, and eyes. In the United States, it is the most common type of OCA OCA-1, caused by massive gene masses; make codes for the enzym tyrosinase. Tyrosinase activity – breaks down the aminoidal tyrosine in its sections – essential for making melanin. Some people with OCA-1B, like those who participated in this study, but it works well. People with OCA-1A are not at all. A variety of OCA is around one in 17,000 people all over the world.

The study followed three-three women and two women over 18 months, including 12 months on the daily mouth of 2 mg of diarrhea, and six months extra without the drug. As long as they had been working with them, Most of the survey participants are slightly skin and hair. The skin of one dark partner grew slightly after its skin; sun to get involved. However, the researchers can not find important changes in eye melanin or in bad sight. With improvements in the statues of the magazine, and with younger patients, Brooks and colleagues want that slight changes in the eye are clearer.

Nitisinone increases the portion of the aminoidal tyrosine in the blood. In people with OCA-1B, Brooks believes that the upper levels of thyrosine are in a position; helps to make variable tyrosinase stable and make the engine more efficient. Brooks' previous surveys have shown that Nitisinone has no effect in OCA-1A, where there is no effect for stabilization, and OCA-3, which affects a different part of the melanin path, so his team does not have to continue this drug for patients with those albinism types. Nitisinone has been approved by the Food and Drug Administration U.S. to cure rare metabolic diseases called tyrosinemia, which causes liver and magic problems.

"We are OCA-2 and OCA-4 in mice, and we're hopeful that this drug could have a big impact," said Brooks. In the meantime, he hopes to start a bigger new lawsuit for teenagers with OCA-1B.

"Melanin is crucial for normal visual development through childhood, but the eye continues to evolve and change across childhood and teenagers," said Brooks. For this reason, Brooks believes that it may be possible to see a magazine dimension and lack of vision in teenagers and that it may have a greater impact on younger children with OCA- 1B.

On February 28th, NIH will identify a Neurogenic Day, which was set up in 2008 to raise awareness of rare diseases and the specific challenges facing patients and their families. In the United States, it is estimated that there is a rare disease if it is; affecting less than 200,000, or about one in 1700, people. About 80% of rare diseases are caused by inherited gene deficiencies, many of which are similar to OCA, without effective cures. NEI is committed to supporting basic and clinical research in relation to rare diseases that affect the vision.

The clinical study (NCT01838655) was funded by the NEI intimate program.

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Materials supplied by NIH / National Eye InstituteSouth Westerly Note: Content can be edited for style and length.

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