The question of the day comes from Joann, who asks, "What the flip is up with the MD Care Act, and why are people posting pictures of sick kids on my Facebook telling me this is important?"
I'm kidding, that's not what she actually said, but it's a valid question nonetheless. Here's a history of the MD Care Act and why it's important right now.
(SPOILER: Advances in DMD research require funding and organization that would likely be lost if the act was not re-authorized. If you aren't a fan of rambling prose and bullet lists you can probably stop here. For the rest, details after the jump.)
The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 was sponsored by Rep. Roger Wicker from Mississippi's 1st district (currently serving in the Senate) and signed into law by GW in February 2001. If you are into reading legislative text and have some time to spare, here's the full text of the bill as it was signed into law:
[MD-CARE Full Text](http://www.gpo.gov/fdsys/pkg/BILLS-107hr717enr/pdf/BILLS-107hr717enr.pdf)
To be honest, I like the idea of reading the full text more than I like reading the full text, mostly because legislative verbiage is ponderous and inefficient, and I don't have a surplus of time to waste anymore evaluating what it really means to "provide for a broad range of research and education activities relating to biomedical, epidemiological, psychosocial, and rehabilitative issues, including studies of the impact of such diseases in rural and underserved communities."
Luckily [PPMD](http://www.parentprojectmd.org/) summarized the act on their site:
This legislation included 4 major points: * NIH would support [Centers of Excellence](https://www.wellstonemdcenters.nih.gov/index.htm) focused on muscular dystrophy. These Centers would have several components – basic research, extensive collaboration, shared resources, as well as, a clinical study. * CDC would establish programs focused on Duchenne muscular dystrophy. This would include improving diagnosis, data collection, and care considerations. * NIH and related government agencies would convene the research and clinical community to develop a research plan. * NIH and related government agencies would establish a steering committee to oversee progress (MDCC).
The act was re-authorized in 2008 and is currently up for re-authorization again in Congress. With the current political climate and financial difficulties that the US government is experiencing, eliminating funding for appropriations that the MD Care Act provides may be an appealing target for cuts since it is addressing the needs of a much smaller constituency than, say, erectile dysfunction (or cancer if you want to be serious).
I will go ahead and admit that the "4 Major Points" on the PPMD site are still a little vague, so here is a list of items that affect my family which are attributed to the MD Care Act: * Improvements to molecular diagnosis have made it possible to diagnose DMD in 95% of cases without the need for muscle biopsy, so Talen was diagnosed from a blood draw instead of having a piece of his thigh biopsied. * A number of new avenues for treatment have been identified and are under various degrees of development. Some examples:
- Myostatin inhibitors
- Stem cell/Myoblast transplantation
- Viral vector-based gene therapy
- Stop codon read-through
- Exon skipping
- Protein analog upregulation
- Applications have been developed for non-invasive ventilation and cough assistance in patients with DMD who require respiratory assistance
- Significant investigation has been committed to diagnosis and management of cardiomyopathy in patients with DMD, which has lead to the application existing pharmaceuticals like Eplerenone, Losartan, and Lisinopril to DMD populations.
- I don't think it's definitive yet, but there is indication that these drugs improve pathologies beyond the expected cardiac impact
- Quantifiable discoveries have been made to improve the understanding of cognitive impacts in DMD
- Can't stress how important this is, because it is real and observable, but DMD doesn't cause profound cognitive impairment so it is a fight to assert that Talen's academic needs are different from normal populations
- Recognition of decreased bone mineral content
- I think we know how relevant this is given recent events
- The standardization and development of multi-disciplinary treatment protocols for DMD
(Source: [MDCC Action Plan](https://mdcc.nih.gov/action_plan/2015-action-Plan-to-MDCC-508comp.pdf))
In a broader sense, the MD Care Act is responsible for a $463 million influx into muscular dystrophy research, with $192 million of that being earmarked for Duchenne specific reasearch.
Watson and Crick discovered the structure of DNA in 1953 and its impact on DMD was not felt until 1986 when Louis Kunkel identified the dystrophin gene. It was another two decades before any real application was made that leveraged these discoveries, but in the past ten years there has been a flurry of advances that hold a lot of promise for kids afflicted with DMD. I think we are right on the verge of some very major changes to the course of this disease, but the research necessary to move forward will wither on the vine if funding and oversight is not maintained through legislation like MD Care. Right now the hope that one of these treatment options will come to fruition very soon is the only thing that keeps me getting out of bed every day.
Does that fit in the box? ;)