Myotonic Dystrophy may be the first of the muscular Dystrophy to have a definitive cure established. In the last few years researchers have isolated the issue they believe causes myotonic dystrophy. In the last couple of years therapies that have targeted this problem have reversed the disease in cell and animal models. This has set up a race now for researchers to refine the therapeutic compounds and begin with human trials to see if the animal to human therapeutic transfer works as it is believed to. Thus, this would lead to the first potential cure for a type of muscular dystrophy.
The Myotonic Dystrophy Foundation (MDF) in Menlo Park, CA has taken a lead in assisting researchers with moving forward with this disease elimination process with funding and assistance in establishing a patient registry. The MDF was the early funder of a new Research Collaborative effort lead by Charles Thorton out of the University of Rochester. The foundation has also been instrumental in educating patients and physicians in this complex and slowly progressing disease that results in premature death. A patient conference is planned for early November of 2013 in Houston, TX
A few years ago few believed that a cure could be this close. The cause of the disease was being narrowed but a number of questions remained on the function and dysfunction of the mechanism causing myotonic dystrophy. With a collaborative work through a biannual consortium of researchers (IDMC) the Messenger RNA mRNA were found to be “clogging” up the cells causing multiple what is called “foci” in the cells. A few researchers then began working on “Anti-sense” and small molecule approaches to disrupt this foci.
Eureka! The results were stunning to the researchers in this area. These therapies disrupted the foci and returned the cells to what appears to be a nominal functioning status. Recent studies of a compound by Isis Pharmaceuticals concurred with these results in an animal mouse model. The effects of myotonic dystrophy in mouse muscle were substantially reversed for an extended time period. This was a eureka! moment, still needing to be collaborated by Human studies of course but a certain breakthrough for sure.
So the race for the cure is on if all the indications continue to show green lights. There has been a substantial shift from basic research to research that supports a therapeutic end. The light at the end of the tunnel can begin to be seen by all involved in this disease. This Cure will also help with understanding a multitude of other diseases. Myotonic Dystrophy is a complex disease that affects most organ systems in the body for Example:
Autism: Myotonic dystrophy in the Juvenile and congenital forms are one of the few single gene causes of autism. In engineering a way to reverse this researchers will have a model that allows them to turn on and off the disease to help understand the basic mechanisms
Executive Function: Many of the individuals with this disease have issues with judgement and executive function. Again by having models where this can be turned on and off the basic mechanisms of loss of executive function can be more easily studied. As the US populations ages this will be a helpful way to study the disease.
More: There are a lot medical deficits that affect patinets with Myotonic Dystrophy a number of these are:
- Progressive work failure
This means that the companies that develop the compounds will not only reap the rewards of curing this complex disease but they will also be able to help solve the mystery of other complex disease processes. This may be accomplished by having a single gene cause of the disease be able to be reversed. For example Autism occurs in the Juvenile and congenital forms of myotonic dystrophy caused by this single gene. If the injections or small molecule compounds ar able to reverse Autism then researchers will be better able to define what is causing the autism spectrum disorders.
From an investor point of view increasingly companies and small investors are interested in this disease and its cure. The lifetime cost of the disease plus the loss of viability of the sufferers creates an immense opportunity to increase economic output in the individuals affected. Many of those most affected can not work. The most severe form of the disease causes substantial economic impact. My son Chris and his medical costs alone in the last 23 years have topped over $2 Million dollars.
Approximately 2 Million people worldwide have this disease with about 1M having the DM1 form of the disease. At a projected $25,000 annual cost the absolute market size for DM1 is 25 Billion with a reachable amount of 10% of this size of 2.5 Billion, with a somewhat smaller amount for the DM2 populations. So 2-5 Billion is an interesting number for companies and researchers.
Because this is such a small niche area in terms of numbers of suffers in the developed world it has not gotten a lot of attention.. Indeed an article by the Local San Diego paper on Isis Pharmaceutical did not even mention the potential of this drug and disease, although it delineated many of the other therapies that Isis is working on. Thus, the drug companies and analysts don’t even know what a bonanza they have. Other companies such as Prosensa, Smart Technologies and a few others are working on the compounds. Other locations such as UCLA’s Sita Reddy Lab are seeking funding and sponsors.
The gross profit opportunity is high here as well. Because the preliminary indications are that the drug is high successful in a single or dual timed period doses the Gross profit per injection will be quite astronomical. And the injections will be required on a periodic basis maybe 1-2X to keep the disease at bay.
From the investor standpoint, a drug in development that has unusual ability to disrupt the mechanism of action, a relatively large (2 million world-wide population to serve), a small number of labs working on the disease, a patient registry established by the MDF, and not much written about this potential cure, researchers that are are now talking about a potential cure. The downside is that the animal model may not translate to human efficacy and of course a host of other issues Side effects, FDA regulations etc. ITs still early in the research so much can change but the promise of a cure is right there on the horizon.
The affected individuals with all forms of the disease are eagerly awaiting the next Myotonic Dystrophy Conference Hosted by The Myotonic Dystrophy Foundation in Houston in early November 2013. At this conference the results of information from the 9th annual IDMC-9 conference will be unveiled to the public. The IDMC-9 is a consortium meeting of industry, researchers and support groups dedicated to sharing information and advances about myotonic dystrophy and is attended by almost 500 people. The conference is bi-annual and will be in San Sebastol, Spain in October 2013