MTM~CNM Family Conference

Wow! It's hard to believe that the conference is finally here! Last night we had family introductions, an incredible dinner, and time to bond.

Today begins the researcher talks! Dr. Dowling just gave an overview of the Natural History Study and why it is so important that you enroll your family. We would like to find a treatment or cure for MTM - CNM and the more information we can give the researchers, the further we can move forward!

Anne Rutowski, MD: Congential Muscle Disease Clinical Trial Readiness (CMDI)

Dr. Rutowsk is a licensed emergency room physician in the Los Angeles area. Her daughter, who is 13, has a congenital muscular dystrophy. She speaks of how she feels her story is similar to the journey many families with rare congential diseases. Her daughter was diagnosed when she was a baby with Cerebal Palsy. Shortly thereafter, their doctor gave them a diagnosis of congenital muscular dystrophy and found that it was a very rare form. She spoke with Dr. Mutoni in London and received an email stating her daughters diagnosis and was also informed that there was now a genetic test to determine the specific mutation. Her daughter was the first in the US to have the diagnosis of this specific fom of Congenital Myscular Dystrophy.

Dr. Rutowski and two other families formed the non-profit  http://www.curecmd.org with the goal of raising awareness and identify treatments. The vision is that one day all CMD children and adults have the opportunity to particiapte in a clinical trial. Congential Muscular Dystrophy and MTM-CNM have an overlap in medical condition and treatment.  For both to work together, we can share a , biobank, registry and tissue reposity which is more cost effective and ultimately work toward finding a cure. Doctors that are working on CMD are also working on Congential Myopathies (which MTM-CNM falls under.) 

Congential Muscle Disease Biobank: stores muscles, blood and tissue that (eventually) can be made available to doctors throughout the world, working to find a treatment and cure. For more information you can contact Tara Schmidlen, MS CGC, certified genetic counselor. COntact her at tschmidl@coriell.org. She can send you the information about blood draws and how to get enrolled in the study! It is a great opportunity!

CMD International Registry http://www.cmdir.org: is a patient and parent self repost on care and outcomes. Is has been translated into a variety of languages. Currently over 25 countries have participants which count over 400 at this time. It was initially focused on CMD but has been expanded through limb girdle spectrum (LGMD). This registry can act as a central hub for clinical study and trial information. It promotes diagnosis and genetic confirmation (where available) through national centers of excellence. It is also linked to the CMD Biobank and CMD GaP (Genotype and phenotype study).

Research: Looking for specific treatment/cure, animal models

Natural History Study:  To obtain approval, the FDA will not approve a drug to be used unless is can be a positive outcome on how a person with the disease feels and functions.

There is Strength in Numbers!

How you can help: donate to the CMD biobank if getting a blood draw, get involved in the Natural History Study, register with the CMD Registry, join the online Facebook group!