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Source: Marinkovich Medicine EB Subtypes

INM-750 for the Treatment of Epidermolysis Bullosa

Overview

According to J.D. Fine’s 2010 publication “Inherited Epidermolysis Bullosa”, Epidermolysis Bullosa, or EB, is a collective name of a group of genetic disorders of connective tissues characterized by skin fragility leading to extensive blistering and wounding. It affects skin and mucous membranes, particularly of the gastrointestinal tract, genitourinary and respiratory systems. It is a debilitating disease affecting a small number of people in the United States, thus earning it an orphan-disease status. The disease has no definitive cure and all current treatments are directed towards symptoms relief. There are, however, a number of products, mainly gene therapies, in clinical trials, in which a cure is being explored, according to several recent scientific publications.

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The Science behind EB

At the most basic level, the hallmark of EB is poor anchoring of the epidermis to the dermis such that the skin and mucous membranes of the affected individuals tend to shear and blister on minimal friction. This is due to the genetically inherited defect in certain genes (multiple genes have been shown to be associated with the different subtypes of EB) that code for some specific proteins that are concerned with maintaining the integrity of skin and mucous membranes.

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Classification of EB Types

There are four main subtypes of the condition:

a. EB Simplex. This is the most common form of EB and is characterized by a lack of adhesion of the skin directly above the basement membrane (the basal layer of the epidermis). An estimated 55% of people with EB have EBS resulting from a genetic defect of the keratins K5 and/or K14. The most common form of EBS manifests itself as blistering confined to the hands and feet while in others blistering can occur all over the body. Blistering generally appears during the neonatal period but it can also manifest itself in later childhood (or even in adult life). Painful skin blisters are accentuated by friction, especially on the feet where footwear causes increased irritation. Friction injuries tend to occur more commonly in warm weather and secondary infections are common.

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Epidemiology, Morbidity and Mortality

The most reliable figures on the prevalence and incidence of EB are derived from the National EB Registry, or NEBR, which collected cross-sectional and longitudinal data on about 3,300 EB patients in the United States from 1986 through 2002. The prevalence of EB was estimated to be approximately 11 patients per million people, and the incidence approximately 20 patients per million live births. Assuming that mild cases of EBS are reported only 10% of the time, the affected population in the United States is approximately 12,500; other sources cite populations of up to 25,000.

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Current Treatments

As a genetic disease, EB has no cure and, as an orphan-disease, there are no approved products specifically for this indication. As presented in Fine and Hintner’s 2009 publication “Life with epidermolysis bullosa (EB). Etiology, diagnosis, multidisciplinary care and therapy”, effective management of EB patients involves a collaborative approach between several specialists, including surgeons, dermatologists, ophthalmologists, dentists, psychologists, physiotherapists and geneticists. The aim is to provide support to the patient by alleviating symptoms and managing complications. In particular, the patient caregivers must assess and act daily to treat the wound/enable wound healing, address the current level of pain and itch, provide adequate antimicrobial protection, reduce inflammation (as a source of depressed wound healing abilities) and address the emotional state of the patient.

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