EB Awareness Week – 25-31 OCTOBER 2014

What is Epidermolysis Bullosa?

Epidermolysis Bullosa is a genetic skin blistering condition that affects over 500,000 people around the world, but very few people have heard of it. Those who have realise what a devastating impact it has on sufferers and their families. It is unrelenting in its pain and unrelenting in the distress it causes.

Why haven’t you heard of it?

Because there is no treatment and no cure and as a relatively rare condition it has been easy to ignore.

Groundbreaking research is on the point of delivering treatments and possibly a cure. The work to get there will help people with many other genetic conditions.

For more information about EB click a heading below.

[accordion title=”Essential EB facts”]
It affects both sexes and every racial and ethnic background equally.

EB results from a genetic mutation in one of the genes that have been found to cause the disorder.

There are four main types – Simplex/Junctional/Dystrophic/Kindler

Milder forms of EB cause extensive pain and blistering but do not disfigure and are not lethal.

Severe forms cause death in the first few months of life (Herlitz Junctional) or mitten deformities, extensive skin loss (like burns), anaemia, difficulty swallowing, microstomia (small mouth opening), corneal scarring (sometimes blindness), malnourishment, and eventual death from skin cancer usually between the ages of 20-30 years.

Constant pain. With open wounds like burns all over the body sufferers never have a moments rest from pain.
[accordion title=”What research is going to help?”]
There are a number of early phase Clinical Trials taking place NOW across the world aimed at treating EB – locally and for the whole body.

These are looking at :
1) Stem cell
2) Gene Therapy

We are awaiting :
3) Protein therapy trial
4) Drug therapy trial
[accordion title=”Research in the UK and US funded by the Sohana Research Fund”]
FACT that you need to know about the SRF:


We are proud of this fact.


(John McGrath, KCL,London) a phase l/ll Clinical Trial of Mesenchymal Stromal Cells(MSC) in RDEB

To develop TALEN gene-correction

technology re individualised stem-cell therapy options for children with RDEB (Jakub Tolar,


(John McGrath, London) Understanding how allogenic Mesenchymal stromal cells

can modify disease severity in RDEB

Limbal stem-cell therapy

for RDEB (Jakub Tolar, Minnesota)

Institute of Child Health London

(Qasim) Centrifuge for Gene therapy

LENTICOL-F Gene modified autologous fibroblasts

for local treatment in RDEB

Current debra UK funded projects

Clinical Trials information in the US

McLean/Heagerty 1 (Dundee/Solihull) – To be in a position to move to clinical trials of siRNA on EB Simplex

Bauer 5 (Austria, Italy, Germany) – To develop therapies which combine ex vivo gene therapy with stem cell transplantation for Junctional EB http://www.debra-international.org/research/funded-research-projects/bauer-5.html

Mellerio 1 (London) – To document a Natural History of EB and

validate Clinical Endpoints appropriate to therapy evaluation by industry and regulatory authorities

Gaggioli 2 (Nice, France) – To validate findings that will develop a drug

to counteract scarring and Squamous Cell Carcinoma in patients with Recessive Dystrophic EB

Roopenian 2 (Maine, USA) – To identify modifier genes in Junctional

EB that affect the severity of symptoms experienced by different patients with the same primary gene defect

Brunton 1 (Edinburgh) – Defining the role of Kindlin1 in the regulation of microtubule stability and mitosis

Inman-South 1 (Dundee) – TGFβ signalling in RDEB Squamous Cell

Uitto 1 (Philadelphia, USA) – Novel approaches for read-through of nonsense mutations in COL7A1
[accordion title=”What is EB Awareness Week?”]
EB Awareness Week is an annual event to raise awareness of the condition. It’s the first step in finding a cure for the 8,000 people in the UK affected by it and the 500,000 people worldwide.
[accordion title=”How you can help”]
We’re launching a fun challenge to raise awareness and funds on social media. Stay tuned for more details.

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