Prosensa’s First Intramuscular Human Trial Successful

We are pleased to report that the first ever human exon skipping trial showed positive results. Over the last few months, Prosensa injected three boys with their exon skipping compound into a small section of a single muscle. The objective was to “trick” the muscle cells into producing the dystrophin protein that is missing in Duchenne boys. By using this “genetic velcro” they were able to manipulate the dystrophin gene to produce a shorter, but hopefully functional version of the protein in the small section of muscle in all three boys.

Fortunately, no side effects were observed. As this phase of the trial progresses with positive results, Prosensa will apply to the regulatory agencies for a full body, systemic trial. This is a huge move forward but we still have a long way to go before this becomes a reality. Delivering the compound to the all muscles is a difficult hurdle, but we are thrilled to see so many positive steps that give us hope. We are hopeful that we will be reporting more significant and positive news from Prosensa very soon.

 

Prosensa Approach PDF:

prosensaapproach

Working Together to Fund Promising Research Poloxamer Patch Potential Therapy – It’s About the End Goal…Our Boys

CureDuchenne continues to leverage our effectiveness by partnering with other foundations to quickly fund viable research projects.

CureDuchenne and three other Duchenne foundations have recently pooled their resources to fund a novel approach for a potential treatment being conducted by Dr. Brian Tseng, MD/PhD, a prominent muscular dystrophy researcher at the University of Colorado Health Sciences Center and a doctor at The Children’s Hospital of Denver. Dr. Tseng’s lab is testing the effect of a membrane sealant on the leaky dystrophin-deficient membranes of skeletal muscle cells. The purpose of this project is to develop an effective treatment that will strengthen the cell membranes, using a chemical called poloxamer 407, as a chemical Band-Aid, patching these holes and tears in the muscle.

This direction was triggered by two high school students working in Dr. Tseng’s lab, Lalith Polepeddi and Mike Polmear (Denver’s own Whiz Kids). The original idea of using a smaller membrane sealant compound called Poloxamer 188 for cardiac muscle was developed in Dr. Joseph Metzger’s lab at the University of Michigan. Poloxamer 407 is thought to be a relatively safe compound. In fact, poloxamer 407 is found in daily household commodities such as mouthwashes, children’s cavity rinses, suppositories and also used as the solid coating of many pharmaceutical pills and tablets.

This study is significant because it could one day represent a therapeutic treatment designed to compliment and enhance other therapies for DMD. This is not a cure and the research is very preliminary, but it is a direction that has not been explored before.”

View ABC’s interview, “High School Whiz Kids Search for MD Cure,” at  www.abcnews.go.com.   Watch ABC’s video report, “Whiz Kids Big Muscular Dystrophy Find”, at  www.abcnews.go.com/Video.

Tseng Press Release:

cureduchenne-tseng_press_release-11-8-06

PTC in Phase 2 Trials of Promising Drug Therapy

PTC 124
No one can say that Duchenne is still a hopeless disease. PTC is in Phase 2 trials for a drug that holds great promise of halting the progression of Duchenne. 

PTC124 allows the cellular machinery to read through premature stop codons in mRNA, and thereby enables the translation process to produce full-length, functional proteins. This particular drug will only be effective on approximately 10% of DMD boys who have a stop codon mutation, but it appears that PTC has made a big step forward and offers hope to all Duchenne families.

PTC’s Small Molecule Initiative
PTC has also developed a technology for screening potential drug compounds which could either up-regulate or down-regulate various genes in the body which could compensate for the lack of dystrophin, the missing protein in DMD boys.

CureDuchenne was one of the largest contributors to the first stage of this research and the results were very positive. PTC came up with “hits” on 5 different gene targets. The next step for PTC is to take these compounds and turn them into drugs so they may be tested in a pre-clinical setting. Other companies and institutions are developing similar high-throughput screening techniques, including UCLA. CureDuchenne will monitor the development of this research and will fund the most promising project.

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