Dystrophic Epidermolysis Bullosa Fact Sheet

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Epidermolysis Bullosa

Embryonic stem cells can mature into all cell types in the body. Learn more about this image by clicking on it or see more nervous system images on our Flickr Photostream.

CIRM funds a multidisciplinary disease team developing a stem cell-based therapy for the devastating childhood disease epidermolysis bullosa.

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Stem Cell Basics Primer | Stem Cell Videos | What We Fund

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CIRM does not track stem cell clinical trials. If you or a family member is interested in participating in a clinical trial, please see the national trial database to find a trial near you: clinicaltrials.gov

The role of stem cells in epidermolysis bullosa

Dystrophic Epidermolysis Bullosa (DEB) is a rare childhood disease that has largely received little attention or funding. The California Institute for Regenerative Medicine (CIRM) has allocated close to $12 million to the development of a stem cell treatment for this disease. (Here's a summary of that award.)

Researchers at Stanford University are currently developing a novel stem cell based therapy for this disease, which is caused by a genetic mutation that results in skin in which the layers fail to adhere and slough off easily. The aim of this therapy is to first take a few skin cells from each patient and first reprogram them into induced pluripotent stem cells. The team then plans to genetically correct the cells by replacing the defective gene with a normal gene. They will then differentiate the corrected stem cells into skin cells, multiply them in large scale and grow layers of gene-corrected, normal skin.This new healthy skin will then be transplanted back onto the patient. The corrected skin cells will have the same characteristics as the patient's own cells and should not be rejected if grafted back onto the same patient. The only difference from the patient's original skin cells will be that the grafted cells will not cause EB.

Part of the CIRM EB Disease Team award will support UC Davis researchers who will develop subsequent clinical trials to test the efficiency of the therapy.

Key to the clinical trials is a facility at UC Davis, which has been funded with a $20 million major facilities grant from CIRM. Dr Gerhard Bauer runs the UC Davis GMP (Good Manufacturing Practice) lab, which is housed in the CIRM-funded facility. Unlike a traditional research lab, this is an ultra-clean facility that can be used to process cells and other products that will be used to treat patients.

Stem cells, and cells like those that are reprogrammed to be stem cells like those being used in the Stanford EB trial, are the ultimate hope for many with disease. To put such cells into humans requires a level of cleanliness and sterility that can be difficult to create without a state of the art GMP laboratory.

Stem cells or other cells that will be used in human clinical trials often need to be sorted, for instance, isolating those cells that make up islet cells for the treatment of diabetes, or cardiac muscle cells to treat patients having had a heart attack. Dr Bauer has created what is effectively a hyper clean laboratory where there is also a GMP grade cell sorting machine, the first of its kind, allowing the sorting of stem cells and other cellular products at a clinical level.

According to CIRM’s President, Professor Alan Trounson, diseases such as EB represent one key area funding agencies such as CIRM should concentrate on. “High profile diseases such as diabetes and Alzheimer’s disease get a lot of attention, and money. CIRM is committed to finding cures and treatments for as many diseases as we can – whether they be debilitating and rare ones like EB, or conditions that affect a large number of Americans such as heart disease,” he said.

CIRM Grants Targeting Skin Diseases

CIRM EB Videos

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