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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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