Seven years ago, we were a happy family with mom, dad and a beautiful 5 year old boy named Hawken.  We had noticed our son was unable to keep up in his first soccer team but we were assured by his pediatrician he was just a “late bloomer.”  After insisting on some testing, we got the news that every parent dreads…our son had a fatal form of progressive muscular dystrophy…Duchenne.
We were told Hawken would be in a wheelchair by 10, paralyzed by 16 and most likely die at the age of 20.  And there was nothing we could do!  We did the normal search, contacting the MDA, connecting with parent organizations, yet we could not find a group who shared our determination to find a cure to save our son’s life.
During our search for therapies, we came across research projects that had the potential to extend the quality and life expectancy of Duchenne boys but the existing DMD or muscular dystrophy organizations were not interested in funding them.  CureDuchenne was born as a vehicle to funnel funding directly into researchers and biotech companies that had proof of concept but needed seed money to move toward human trials.
duchenne-cell-diagramFortunately, there were two small biotech companies, PTC Therapeutics (New Jersey) and Prosensa (Leiden, Netherlands) that were able to take contributions from CureDuchenne and other organizations and fund their pre-clinical DMD programs. Over the last 5 years, these cutting edge biotech companies have moved into phase 2 trials with novel drugs that show promise of slowing down the progression and ravages of Duchenne.
Because of this initial funding, both companies received large follow on funding from venture capital firms, larger biotech companies and the NIH.  Within a 5 year period, families of DMD boys have been able to move from searching for any possible research to anticipating next phase trials and even commercialization of drugs that could save our boys.
The entire field of Duchenne research changed when biotech companies got involved.  The reason for CureDuchenne’s success in funding projects that have moved forward to trial is that we demanded a solid business plan from our grantees, and it was the for-profit biotech companies that were able to deliver not only the technology, but the roadmap to availability of therapies for the patients.  Without the biotech’s business models and management practices, these technologies would have wallowed much longer in research labs instead of getting to very sick children.
Most parents who have a child with a terminal illness would gladly change places with their child.  When I hear about the millions spent on aging or obesity or even very real adult diseases, I find myself wishing I could have one of those ailments if it meant my son could be healthy.  Life is not fair but for healthy people, most can make it good.  Children with a disease like Duchenne never get a chance to grow up even enough to fight for their cause…so it’s up to us parents to be that loud voice.
In the case of Duchenne muscular dystrophy, there is hope and there are things that can be done to save these boys.  Right now, it all comes down to money.  Duchenne is a well understood disease, we know what causes it and we basically know how to fix it, we just need the larger amounts of money needed to move into the human trial phase quickly.  And for that, we need the help of biotech companies that have the model to deliver drugs to patients.  The biotech companies, however, need funding partners since size of the Duchenne drug market is very small, in most cases a biotech company can’t build an entire company around its Duchenne drug without partners to reduce the risk.
Duchenne research will be among the first to truly deliver personalized molecular medicine to patients. The defective dystrophin gene that causes Duchenne is by far the largest gene in the human body.  There are 79 exons, or bits of information that need to be in order for the dystrophin protein to be produced.  It’s the dystrophin protein which keeps the integrity of the muscle cells intact, without it the muscle cells, including the heart and diaphragm die and the boys get progressively weaker.
Today, the most promising therapies under investigation for DMD are drugs that target the specific mutation of each patient’s dystrophin gene.  PTC is in trial for a drug that addresses about 10% of DMD mutations and Prosensa and AVI Biopharma (Oregon) are targeting multiple exon targets to treat as many boys as possible.  Other companies and research centers are working on complementary chemistries that could boost the effectiveness of those drugs.  These companies and scientists need help with funding, regulatory hurdles and medical insurance issues.
In the next few months, we will have human trial results from PTC, Prosensa and AVI.  If these therapies prove safe and effective, we must have the option to roll out the drug targets to all boys instead of one drug one at a time.  We need the funding to move aggressively with many targets simultaneously and we need the FDA to accommodate a roll-out of this new class of drugs instead of going through the time consuming, expensive and inefficient process of applying for individual Investigational New Drug Applications (INDs).  The FDA and public need to understand that many boys will unnecessarily die by dragging out the process.
There is need right now for funding for testing and evaluating drugs that will streamline the process, which will save lives.  Prosensa is seeking funding for a biomarker project which would enable researchers to test the effectiveness of potential drugs without taking biopsies, a long, painful process that is frowned upon by patients as well as regulatory agencies.  Myomics is looking for quick and inexpensive testing platforms for approved drugs as well as supplements.
Most DMD boys in the United States take a corticosteroid, Deflazacort.   This drug is NOT available in the US, parents must buy it online.  It is expensive and not covered by insurance.  The supplements we give our boys also are not covered by insurance.  There are many challenges that DMD families face, and the financial strains are one of them.
Every day, two boys die of Duchenne.  Although we don’t have a cure yet, we may be close to life saving or life extending treatments.  Now is the time to have the systems set up to fund the next phases of trials and to provide seed money to new and promising therapies.
Debra Miller
President and Founder