PPMD Funds Investigator to Build New Muscle from Skin Cells to Treat Duchenne

Parent Project Muscular Dystrophy (PPMD) has awarded University of Minnesota researcher Dr. Rita Perlingeiro a grant for $220,000 to develop a therapeutic approach for Duchenne using a new type of "adult-derived" stem cell called "induced pluripotent stem cells" or "iPSCs." iPSCs can be created from non-controversial sources like skin, have the ability to multiply indefinitely, and can be coaxed to become many different kinds of tissue types.

Previously, Dr. Perlingeiro's group demonstrated that skin cells from donor mice that lack dystrophin could be converted into iPSCs, and then converted again into muscle stem cells with the mutation corrected using a modified viral carrier. When these corrected mouse stem cells were transplanted into recipient mice that lacked dystrophin, the mice showed improved muscle strength.

Now Dr. Perlingeiro will repeat this process with funding from PPMD, this time using human skin cells from donors with Duchenne and using a safer method of correcting the dystrophin deficiency that does not rely upon random integration. The goal is to start laying the groundwork for an FDA-approved stem cell treatment for Duchenne.

"Translating results in mice to treatments in humans is never straightforward. Support from the Parent Project will be tremendously beneficial at this stage in the development of stem cell therapies for muscular dystrophy."

- Dr. Perlingeiro

Since the mid-1990s, researchers have investigated repairing muscle lost to muscular dystrophy with various types of cells, usually from an unaffected donor whose cells have a normal supply of dystrophin. Key challenges have included producing and purifying enough stem cells to transplant, getting cells to migrate into the diseased muscle, and then getting the donor cells to survive long enough to engraft and build healthy new muscle without being attacked by the immune system. By using iPSCs, Dr. Perlingeiro's approach should theoretically allow an infinite supply of healthy muscle stem cells to be generated from a single small skin sample from a person with Duchenne. And because a person's own cells, corrected for the dystrophin mutation, would ultimately be used for treatment, the potential for the recipient's immune system to reject the new cells is reduced.

In addition to solving production issues and immune rejection issues, it also appears that some of the cells created by Dr. Perlingeiro's technique do not immediately become converted into mature muscle, but are rather maintained as muscle stem cells and continue to produce new, healthy mature muscle cells within the donor muscle. This means that as diseased muscle is lost over time, it may gradually become replaced with new muscle produced from the healthy transplanted stem cells.

"While the field has seen amazing potential in technology like exon-skipping designed to treat specific mutations, we have lacked a more general approach that could rebuild muscle in any person with a genetic muscle disease, regardless of the type of mutation. As the technology to produce stem cells has matured, we are thrilled that Dr. Perlingeiro is applying these new techniques to the problem of rebuilding lost muscle, which has the potential of helping all people with Duchenne."

- Pat Furlong, Founding President and CEO of PPMD

For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.

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Comment by David on March 28, 2013 at 8:04pm

Do we know anything about the parameters of the study? How many boys? How will "transplantation" occur?

If we don't know this yet, when do we think this might be available to parents?

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