In April 2015 we met with Dr. McNally at Northwestern University and learned about the continuing promise of her research and how KPF will be able to further this effort. We hope to make further exciting announcements later this year.

As of September 2014, Dr. McNally has moved from the University of Chicago to Northwestern University. She is continuing her exon-skipping research funded by KPF. In addition, in September 2014, KPF made two additional grants to Northwestern University to further Dr. McNally’s research. One grant provides for exploring skipping in a mouse with an exon 6 deletion, and the other provides for the purchase of oligos for the exon skipping analyses.

We met with Dr. McNally at the University of Chicago and got an exciting update regarding her research. In short, the mini-gamma-sarcoglycan that she created has essentially cured flies with the disease and located properly in mice muscle. This suggests that the protein will locate properly in human muscle cells. Over the next 6-12 months, Dr. McNally’s team will (i) determine whether this mini-gamma-sarcoglycan makes sick mice healthier, and (ii) seek to cause human muscle cells produce this mini-protein by “skipping over” the defect that stops the cells from producing gamma sarcoglycan.

During 2012, we have been developing the first patient registry for people with LGMD2C. The registry will identify individuals worldwide with the disease that will be eligible for potential clinical trials. We are committed to helping as many individuals with LGMD2C as possible and being ready for clinical trials once we have a drug candidate identified.

In February 2010 we learned that our second son Peter, like his older brother Kurt, was afflicted with this debilitating disease, and we resolved to find an effective treatment and a cure for this debilitating disease for which there is no current treatment or cure. In 2010, with the support of friends and family, we founded the Kurt+Peter Foundation. During 2010, we completed the basic infrastructure for the Kurt+Peter Foundation, obtained IRS approval as a 501(c)(3) charitable organization, and met with several researchers pursuing research that offers hope to Kurt, Peter, and the many other children like them. During 2010, we were blessed with the spontaneous contributions from many family and friends which permitted us at the end of 2010 to make two grants to Dr. Elizabeth McNally at the University of Chicago. We are grateful to all of our supporters, and we promise to dedicate all funds donated to the Kurt+Peter Foundation to research for LGMD2C.