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Epidemolysis Bullosa: Rare Disease In The News

October 5, 2014

Epidemolysis Bullosa (EB) is a rare genetic connective tissue condition that involves very fragile skin that blisters or tears with the slightest trauma or friction. EB patients are known as having “Crystal Skin”, and are also referred to as “Butterfly Children” due to the fragile nature of the skin, similar to the fragility of the wings of a butterfly. Dystrophic EB (DEB) is one of the major forms of EB and can vary from mild to severe. It is estimated that EB affects at lease 1/20,000 births.

EB is caused by mutations in the COL7A1 gene, which:

“provides instructions for making a protein used to assemble Type VII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type VII collagen plays an important role in strengthening and stabilizing the skin”.

There is currently no cure or effective treatment, outside of daily wound care, pain management, and preventative bandaging.

I – Patient Advocacy: EB Research Partnership

On October 1st, a new organization, EB Research Partnership (EBRP), is formed as a result of the merging of 2 patient advocacy organizations:

•   Jackson Gabriel Silver Foundation (JGSF)
•   Heal EB.

EBRP is the largest 501(c)(3) non-profit organization dedicated solely to funding research for finding a cure for EB.

II – EB Awareness Week

October 25-31 is EB Awareness Week. The following are international organizations that are celebrating EB Awareness Week:

•   The Dystrophic Epidemolysis Bullosa Research Association of America (DebRA of America)

•   DEBRA Ireland EB Awareness Week

•   DEBRA UK EB Awareness Week

•   DEBRA Australia.

III – 2014 EB FDA Orphan Drug Designations (ODDs)

# Generic Name ODD Date Sponsor Company
1 recombinant human collagen alpha-1 (VII) chain homo-trimer (rC7) 03-17-2014 Shire
2 autologous genetically modified human dermal fibroblasts 06-10-2014 Fibrocell Technologies
3 dry extract from Betulae Cortex (birch bark) 08-07-2014 Birken AG (Germany)


The biopharmaceutical company, Scioderm, announces in April 2013that the company’s investigational topical cream, orphan Drug Zorblisa (SD-101), receives the FDA’s Breakthrough Therapy Designation for the treatment of patients with inherited Epidermolysis Bullosa (EB).

Please Note: “The Childrens Museum of Indianapolis – Morpho Butterfly” by The Children’s Museum of Indianapolis [CC-BY-SA-3.0] | Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

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