This is a recap of the UMDF Symposium day 1. I am going to
try not to get too technical, so I will just put a small recap of each
presentations I attended, but I am also working on a more detailed summary of
the symposium with possibly audio of some of the presentations. I will try to
get everything on a CD in the next couple of weeks. If you are a Mito family or
interested in the details of the symposium, please leave a comment with your
email and I will contact you .
So after a quick continental breakfast, I attended the
following presentations:
·
Welcome and Managing your Symposium experience
by Dan Wright and Chuck Mohan (UMDF)
o For
majority of attendees it is their 1st symposium (that includes me!)
o UMDF
is growing fast, 80 chapters around the country, with 7 regions created and
regional directors position in 3 regions as a trial
o Day
on the Hill was a success, 238 visitors, 42 senators and 82 congressman/women office visits.
o Senate
resolution 490 ( to redirect NIH funds toward Mito Research) and House caucus
(to raise awareness in the House) are the main agenda items we are pushing in
DC
o UMDF
very efficient, only 6 cents of every dollar used for administration (day to
day operations)
·
Maximizing our Mitochondria and the National
Institutes of Health (NIH) by Dr. Groft (NIH)
o NIH
challenge is to coordinate the research
o Patient
registry is one of NIH main focus, without large patient registry it’s hard for
researchers to develop drugs/treatments
o Mayo
Clinic and NAMDC (North American Mitochondrial Disease Consortium) are working
together to coordinate patient registry and make it easier to get info/blood
from patients and families.
I was able to sign up for an appointment with a Mito doc
during the “ Ask the Mito doc” session. This is a private 15 minutes session
with one of the leading Mito docs in the country. So I met with Dr. Enns. He is
one of the EPI 743 drug trial principal investigator( we are waiting to start
Jagger on the drug but it’s on hold at the moment). 15 minutes does go by super-fast,
but it was nice to hear another opinion on Jagger even if it looks like we are
already doing all we can and have all our bases covered. Regardless it was nice
to meet Dr. Enns in person.
The next presentation was very good and very informative,
but it was a lot of info to fit into 1 hour.
Dr. Parikh is a great presenter and the president of the Mito Society.
·
Mitochondrial Disease 101 and potential
therapies by Dr. Parikh (Cleveland Clinic). Video of his presentation is available: http://vimeo.com/45107691
o Mito
present so differently from other diseases, it makes it even more challenging
o Mitochondria
turn food into energy, it is a complex procedure
o Most
research on Mitochondria is less than 5 years old, so still a lot we do not
know
o Mitochondria
are in both maternal DNA (37 genes) and Nuclear DNA (over 1200 genes)
o When
there are more unhealthy Mitochondria than healthy ones, you have a Mito
disease
o Brain
requires 20% of all Mitochondria in body, that is why the brain is most often
affected by Mito disorder
o Mito
disorders/diseases can be primary(Typo in DNA) or secondary (brought in by
another diseases such kidney failure, meningitis, etc or brought in by drugs
such as Propofol, HIV drugs, etc)
o Some
red flag symptoms to look for (including brain issues, motility issues,
hypotonia, hearing loss, etc)
o Diagnostic
is getting better but still a challenge
o Next
Generation DNA Sequencing (NGS) is a new tool that can look at many genes at
once, very efficient but still has limitations
o Depending
on patient, moderate exercise can actually help increase Mitochondria function
·
Clinical Trials and EPI 743 by Dr. Enns
(Stanford). Video of the presentation is available: http://vimeo.com/44762372
o NAMDC
registry is very important for all drug trials. 3 current studies/trials are
using data from NAMDC and Mayo Biobank
o EPI
is similar to Q10 but has unique attribute that allow better absorption by the
brain
o At
this time, it is only on emergency protocol (90 days end of life patients)
o 120
patients currently in study, no drug related adverse events observed so far
o Phase
2 is completed, ongoing dialog with FDA to start Phase 3. First 14 patients on
drug show improvement on Newcastle scale.
o Leigh
patients have priority to get in study since it is the most severe Mito disease,
but study is currently on hold for administrative reasons.
o EPI
expectations are high, so everyone needs to be cautious.
o Other
currents trials are: Effect of exercises vs. inactivity on Mito patient, Phase
3 trial of Co Q10 effect on Mito disease
The next presentation was my least favorite of the entire
symposium, the speaker was very opinionated and at least for me it was not good
information
·
Immunology issues in children with Mitochondrial
diseases by Dr. Pacheco (University of Texas)
o Mostly
talked about immune system of Mito children but serious cases
o Most
of her patients need IVIG (replacement immunoglobulin to fight infections)
o She
is very aggressive with administrating vaccines and antibiotics (which is a
very controversial issue in the Mito community)
The last presentation of the day, was very interesting as
Next Generation sequencing is the future of Mito diagnosis.
·
Genetics and Next Generation Sequencing, what
does it mean to Mitochondrial disease patients and families by Dr. Thorburn
(Royal Children’s Hospital, Melbourne, Australia). Video of the presentation is available: http://vimeo.com/44980534
o DNA
is a string of letters (about 3 billion on each strain), those letters code
what proteins do, a mutation is a change of any of the code
o All
Maternal (Mitochondrial) DNA is passed to the child, but only 50% of Nuclear
DNA is passed to the child from parents.
o 109
Nuclear genes and 34 Mitochondrial genes can cause Mito diseases (but some are
not yet discovered so number will increase)
o Next
Generation Sequencing (NGS) can look at thousands of DNA genes at once. It’s
faster, cheaper and can end diagnosis odyssey.
o NGS
can do sequencing of 10, 40 or 100 genes. All Mito exome (all known Mito genes,
over 1000) is also available.
o Main
problem is how to use and study the data, very few people can understand the
results.
o NGS
is a game changer and will only get better, it will reduce the needs for muscle
biopsy and make diagnosis of Mito disease easier.
The day ended with the UMDF banquet, which was very well
done and the keynote speaker, Dr. Gahl of the NIH undiagnosed disease program,
gave a very interesting and informative talk about the challenges of diagnoses
of rare disease. He (and his team) are like a real life Dr. House department.
The program is growing each year and they have already discovered several new
diseases.
During the banquet, the UMDF also announced those
researchers and projects who will be receiving grants from the UMDF to continue
focusing on Mito diseases/disorders and trying to find treatments or a cure.
I was sitting with some of my new Mito friends from Georgia,
Illinois and Texas (one of them being one of my twitter followers, so it was
nice to finally meet in person). One of the moms has a kid with Leigh ( who is
on the EPI drug), he however seems to be doing a lot better than Jagger since
he is walking and talking so it was hard to tell how much the drug is actually
helping him, but it is very interesting to be able to share experiences and get
tips from other families who are in the same boat as we are.
It was a very good day but totally exhausting both
physically and mentally with so much
info shared by everyone.
UPDATE: The UMDF has posted videos of some of the presentations. I tried to linked them on this blog, but here is the link with all of them: http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.8193117/k.5641/2012_Symposium_Capitol_Hill.htm
therefore I am not going to put a full review CD together anymore as the UMDF audio quality (expect on EPI presentation) is a lot better than what I have. However if anyone want more details info about a certain presentation, don't hesitate to contact us and I will send you the audio file and my notes.
UPDATE: The UMDF has posted videos of some of the presentations. I tried to linked them on this blog, but here is the link with all of them: http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.8193117/k.5641/2012_Symposium_Capitol_Hill.htm
therefore I am not going to put a full review CD together anymore as the UMDF audio quality (expect on EPI presentation) is a lot better than what I have. However if anyone want more details info about a certain presentation, don't hesitate to contact us and I will send you the audio file and my notes.
Thank you very much for posting this. We did not attend this year. We have been in the mito community for over 7 years now. Our daughter is now 8.
ReplyDeleteSebastien,
ReplyDeleteIt was nice meeting you at the symposium.
I understand why you may have been put off by Dr. Pacheco and her stance on vaccines. As a parent who has lived thru watching my child have a severe adverse reaction to vaccines. I understand this on a DEEP personal level. 99.9% of all Dr.'s are pro-vaccine(especially in public) including those at the symposium. This is for many reasons.
I am concerned that parents may have missed VERY important information from this lecture. Dr. Pacheco is the ONLY doctor I have seen present on mito and immunodeficiency. Most doctors (including those from very well known mitochondrial disease centers) are not putting the connection between the two things at all and there is ZERO published data on this. Parents need to have their child's serum IgG and subclasses, IgA and IgM levels run when they are ill (or right before they become ill) to catch this immunodeficiency. These labs may need to be done on more than one occasion before you see the immunodeficiency on paper. My son regresses so bad and stays sick so long I know the immune piece is huge for him. I was the only parent that raised their hand when she asked who have children on IVIG. I was shocked. The only reason I really dug and pushed to have labs to see this issue in my son was because of other parents and the fantastic results some had with IVIG.
She is the only immunologist that is involved in a Mitochondrial Center and is treating this children with a therapy that could prevent permanent regression and severe sometimes life threatening infections. I understand her thinking vaccines are important as these children as often very ill ( not that I agree). I have had to agree to disagree and worked with doctors that I don't agree 100% with to do what is best for my sons.
Tina
Tina,
DeleteIt was nice meeting you too in DC.
We had the same experience with Jagger and vaccine, before we even got the final Mito diagnosis, he had his 12 months shots, and he did not do well with them at all, 2 weeks later he was in ICU intubated, so I am sure there were many factors but vaccines were one for sure, it stressed out his weak body too much.
AS far as Dr. Pachecho presentation, you are right, I probably missed out on a lot of good info because I was so turned off by the way she came across, and I am sure most of the audience was. You just cannot talk that way to Mito families that have different experiences with vaccines, some good, some bad, but probably mostly bad!
And for her to say, each kid should be vaccinated and all her patients are regardless of their condition, I think that is careless and very dangerous!