Drug sought for Netherton syndrome

Las Vegas - Skinvisible, based here, has applied for an orphan drug product designation for its product to treat Netherton syndrome, Globe Newswire reports.

Netherton syndrome is a subtype of ichthyosis also referred to as NETH, Comel-Netherton syndrome, ichthyosis linearis circumflexa or trichorrhexis invaginata. The genetic disease is characterized by excessively scaly, circular red skin, brittle hair and, in some cases, atopic dermatitis. The disease, which presents at birth or within the first year, is a lifelong, debilitating affliction that can be fatal. According to Globe Newswire, no treatments are currently available for the syndrome and options for managing symptoms are limited.

Patients with Netherton syndrome have a mutated SPINK5 gene, which in its normal state inhibits serine proteinase. Serine proteinase breaks down the skin’s intracellular bonds. Without the SPINK5 gene, that breakdown results in the chronic scaly, red skin typical of Netherton syndrome. Skinvisible’s product is a serine proteinase inhibitor applied topically to prevent this constant breakdown.

The Orphan Drug Act was created to provide incentives to pharmaceutical companies to develop products for patients suffering from rare diseases, which in the United States are defined as conditions that affect fewer than 200,000 people. The incentives include eligibility for seven years of market exclusivity for the product as well as a waiver of fees, tax incentives and a potential for grants to fund clinical trials. Some orphan drugs receive an expedited review if the disease is severe or life-threatening.

Skinvisible also has filed a patent application for its product with the U.S. Patent Office.