Chronic Fatigue Syndrome & Mitochondrial Dysfunction?

24 Nov

Researchers at Columbia University are recruiting for a trial of four nutrients that may support improved mitochondrial energy production in Chronic Fatigue Syndrome (ME/CFS) patients. The trial, set to start in February, will be randomized, double blinded, and placebo controlled, and now listed in ClinicalTrials.gov (“Chronic Fatigue Syndrome: Correction of Mitochondrial Dysfunction by Conditioning Exercise and Nutraceutical Therapy” ).

They have found that patients with CFS and mitochondrial dysfunction both have elevated lactate levels after exercise and have similar results on nuclear magnetic resonance (NMR) spectroscopy.

Again, yet another connection to mitochondrial dysfunction!  While allegedly “rare” we are seeing so many more connections between mitochondrial dysfunction and other common medical issues!

 

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Edison Pharmaceuticals to Provide Expanded Access to EPI-743 for Mitochondrial Disease

9 Jun

On June 8th, Edison Pharmaceuticals announced that they have been given approval by the FDA to expand access to their orphan drug, EPI-743, which has already shown great promise in early clinical trials.  You can read more about it in this article at CNBC.

I know of at least one child with Leigh’s Disease that has been involved in the clinical trial of this drug and it has improved her life tremendously!  This could be huge and the first “real” treatment for mitochondrial diseases.

Everyone is now asking, of course, how do I get in the trial?  How can I get this drug for my child?  Answers to those questions will hopefully be coming next week, when Edison presents to audiences for MitoAction and the United Mitochondrial Disease Foundation.

On Thursday, June 16th, MitoAction will welcome Edison Pharmaceuticals to one of their teleconferences which is open to the public.   Anyone can dial in and listen to learn more.   (MitoAction also records all of their teleconferences and posts them on their website.  We will link to that once it is posted after the call.)  You can get the specific information about the call and how to participate, on MitoAction’s website.

On Friday, June 17th, the UMDF will welcome Dr. Bruce Cohen along with Edison Pharmaceuticals to an informational session at their Annual Mitochondrial Symposium (which is being held in Chicago this year).  If you are going to the Symposium, you will be able to attend this informational session on Friday morning to learn more.  (At the time of publication, it was not clear if UMDF will record the session and make it publicly available afterward.)  You can get more specifics on the session on the UMDF website.

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Muscle Biopsies – To Do or Not To?

7 Aug

Anyone in the mito community has heard the line – “the muscle biopsy is the GOLD standard in mitochondrial diagnostics” – however, that is quickly changing.  The problems with diagnosing mitochondrial disease is that it is an arduous process, many mitochondrial symptoms are misdiagnosed as other problems, and the main testing vehicle  – the muscle biopsy – was invasive and expensive.  Many labs have been working on this issue and there are new tests popping up in clinical trials, and hopefully in clinical practice, as we speak.

As a patient, or the parent of a patient, who is pursuing a mitochondrial diagnosis, however, the negatives associated with the muscle biopsy are a real problem today – and one that should take careful consideration.  There are many things you should consider before undergoing a muscle biopsy – real concerns and issues.

Dr. Fran Kendall, of Virtual Medical Practice, has put together a great document to start with when faced with the decisions surrounding a muscle biopsy -  Muscle Biospy FAQs .   I found it to be very insightful and interesting, and to provide answers to so many questions that I would have wanted answered three years ago before my daughter’s muscle biopsy.  I hope you find it just as helpful!

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UMDF Symposium 2011

24 Jun

Word has it that the 2011 Symposium will be in mid-June in CHICAGO in 2011! Stay tuned for more information as we get it!

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Mito, the Aging Process & Other Diseases

13 Apr

There is more and more research connecting mitochondrial dysfunction with many other major diseases and illnesses – including autism, parkinson’s, alzheimer’s, and even some forms of cancer. The link between the mitochondria and other diseases, as well as aging in general, is in its infancy and needs much more research! Not only will this research help us understand many other conditions, but it may also lead to treatments and cures – for mitochondrial disease as well.

Vamsi Mootha, MD, PhD at Harvard speaks on behalf of Mitoaction.org about the impact of the mitochondria on many common diseases and the aging process in this video. Definitely interesting!

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Mighty Mitochondria in Action – Video

10 Apr

MitoAction.org in conjunction with students from the Center for Digital Imaging Arts at Boston University have put together an informative video that helps explain what happens to cause mitochondrial disease. This is a pretty interesting and informative video that would be great to show to teachers, friends, and family to help explain “mito” in a simple way. While it is not all-encompassing, it is not intended as such – rather it was made to simply give an introduction to mitochondrial disease and raise awareness.

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Autism Speaks Looking at Mitochondrial Dysfunction as Cause

13 Mar


I’m very happy to report that Autism Speaks is starting to seriously consider mitochondrial dysfunction and its relationship to autism. While the Hannah Poling case initially got everyone jumping up and down about the connection between vaccines and autism, once again, the more important thing that should have come from that case is that Hannah Poling had a diagnosis of mitochondrial dysfunction. The fever that Hannah experienced as a result of the vaccinations, rather than the vaccinations themselves, may really be the “catalyst” that caused her autistic regression .. chew on that…

On the Autism Speaks blog, a recent article was posted that I feel would be very beneficial to the mito community and the autism community to read. It looks at the relationship between fever and mitochondrial disease as a cause for autism and autistic regression. Clearly, this is a link that needs further study and serious research.

Now, even if your child does not have autism, ANY research into mitochondrial dysfunction and disease is a WIN for the mito community! It can only help us with awareness and helping to understand this complex disease and how to treat and ultimately cure it! I applaud the autism community and Autism Speaks for their groundbreaking look at mito as a possible cause for at least some forms of autism.

Post your opinion on this in the comment section – especially how important you think it is for the mito community to partner with some of the large organizations such as Alzheimers, Parkinsons and Autism, in fundraising and research to spur mutually beneficial answers to our intertwined problems!

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The Brittany Wilkinson Mitochondrial Disease Research and Treatment Enhancement Act

27 Jan

On Thursday, December 10, 2009, Senator Barbara Boxer (D-CA), introduced S. 2858 – “The Brittany Wilkinson Mitochondrial Disease Research and Treatment Enhancement Act of 2009”. Senators Richard Durbin (D-IL), John Kerry (D-MA) and Robert P. Casey (D-PA) all signed on as co-sponsors of the legislation.

The house measure is a companion bill, HR 3502, which was introduced by Representative James McDermott (D/WA-7), introduced in July, 2009, and carries 29 co-sponsors representing a mix of democrats and republicans. Both measures call for the creation of an ‘Office of Mitochondrial Medicine’ within the National Institutes of Health (NIH); asks the NIH to develop a research plan to promote and coordinate efforts to educate researchers and health providers about mitochondrial disease; and for the NIH to award grants to increase research of mitochondrial diseases and to establish Mitochondrial Disease Centers of Excellence to promote research, education and mitochondrial medicine training.

The United Mitochondrial Disease Foundation has an Action Center where you can find your legislator and also get information on how to send a letter asking for their support. You can go HERE to help advocate for this worthy cause!

I’ll post the link HERE shortly on where you can go to see full copies of the bill and/or download it. I’ll also be keeping you updated on the status of this bill!

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Taking the Blog to a New Level

27 Jan

When I first started this blog, the idea was to put cutting edge information on mitochondrial disease on the site – so that it would be a place that would have all the information on mitochondrial disease in one place.

As I have worked on the blog and thought more about it, while I am still going to post information on new research, articles, and all information related to mitochondrial disease, I am also going to focus on my personal experiences with my daughter’s mitochondrial disease. I will be posting articles on medical and therapy tips, dealing with IEPs, day-to-day issues with a special needs child or a medically fragile child, and just dealing as a parent with the demands and stresses that having a child with mitochondrial disease puts on you and your relationships.

I’m hoping that by expanding the scope of this blog, I will post things that are of interest and help to more people and families dealing with mitochondrial disease, or even just special needs children or with rare diseases.

I look forward to hearing from you! Leave a comment and let me know if there are certain things you would like to hear about, things that you like that I am writing, and whether I need to focus on something specific!

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Autism and Mitochondrial Disease Link?

27 Jan

In a recent study, researchers found more evidence to possibly connect autism and mitochondrial disease. The article, Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression, is not yet fully published, but the abstract indicates a possible link. Their study was based upon twenty-eight (28) patients who fit both the criteria for autism and had confirmed mitochondrial dysfunction. Over 70% of the study group regressed after a high fever – not necessarily after vaccinations. However, it appears that the study recommends that fever management is paramount after vaccinations in order to help reduce regression risk in this population.

Unfortunately, most children with mitochondrial disease are not diagnosed until well after they have already been vaccinated. Extrapolating from the abstract alone, aggressive fever management in all children receiving vaccinations would be the best course of action.

Once the full article is published, I will do an update on it with more information.

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