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Germline Gene Therapy Could End Mitochondrial Diseases

27 Aug

Scientists have successfully tested some germline gene therapy involving replacing genetic mutations in mitochondrial DNA of a mother’s egg to produce a disease-free, or genetically proper, egg.

“In theory, this research has demonstrated it is possible to use this therapy in mothers carrying mitochondrial DNA diseases so that we can prevent those diseases from being passed on to their offspring,” said Shoukhrat Mitalipov, of Oregon Health and Science University in Beaverton, Oregon.

While conventional gene therapy has been tried in humans for over 20 years, germline gene therapy – involving mitochondrial DNA – is new and means that the changes would be passed on to the next generation.

Read more about this new study HERE. This is exciting news in the world of mitochondrial disease!

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Investigational Drug for Alzheimers – Could it help Mitochondrial Disease?

19 Jul

Pfizer recently announced that Dimebon (latrepirdine) is in Phase 3 trials and doing well. The drug is targeted to treat Alzheimer’s disease, but it may be one that we need to look at for treatment of mitochondrial disease as well.

Dimebon, according to Pfizer, is thought to potentially stabilize or improve mitochondrial function in a way that prevents neurons from damage and dysfunction. This is a distinct and new approach to Alzheimers from other medications on the market, and highlights the relationship between mitochondrial dysfunction and Alzheimers’ disease.

Clearly, this is one drug we need to keep our eyes on. Pfizer may be approaching it from the Alzheimers bent as, once again, Alzheimers is a “hot” and “sexy” topic and there is a large economic market for drugs. Regardless, we need to continue to push the marketplace, researchers, pharmeceutical companies, and especially the government to fund more research for mitochondrial disease, as mitochondrial dysfunction is a clear player in so many other devastating diseases.

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New Diagnostic Test for Mito

17 Jul

MEDomics has started using a new test called MitoDx to detect any and all mutations in any of the 37 identified mitochondrial genes. You can read more about it here. This is supposed to be a new way to help do early detection of mitochondrial disorders that do not require as invasive of testing (as the usual muscle biopsy). While it does detect mutations, it may not identify all with mitochondrial disease or dysfunction as there may be genes not yet identified that affect the mitochondria.

“To my knowledge, MEDomics is the first laboratory to offer a whole genome clinical diagnostic test utilizing the powerful NextGen sequencing technique” says Steve S Sommer, MD, PhD, Founder and President of MEDomics. (For more on the test itself, go here .)

It looks promising! I’m going to ask our mito doctor about it for our daughter.

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Mito Drug advances to FDA Phase IIa Trials

17 Jul

Penwest Pharmaceuticals has been working on a new mito drug – A0001 – for the treatment of mitochondrial diseases. The Phase 1b Trial of the drug under FDA guidelines went well and they are moving the drug into the next phases of the trial, as they move forward on orphan drug status and closer to an FDA approved medication for mitochondrial disease! The link will take you to the press release article for more information. It is great that there is some attempts being made to make medications to help mito!

Penwest Announces Results of Phase Ib Trial of A0001

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General Management of Mitochondrial Disease

25 May

I found a fabulous resource today while I was researching yet another issue regarding mito and my daughter. Mitoaction has a Clinician’s Guide on their website which is a wonderful resource for the patient, caregiver or medical professional. The guide is totally on their site and different sections are easily accessed by clicking on them. You even have an option to print the page/section you are reading as you go along.

For me, I think its a great resource for parents of mito kids. Read the guide and print out sections that deal with issues your child is dealing with and take them to their doctor(s). While the guide is a wonderful resource for primary care physicians, I think that specific sections would be very valuable to take to a specialist’s appointment – if for nothing else than to have a starting point on many difficult topics or to give you ideas for questions to ask.

I urge you to look at it and pass it on – the link, this blog post, or printed pages – to anyone and everyone that comes into contact with your child. There is even a printout for dealing with mito in school! That’s something EVERY mito parent should print, pass out, and hold onto!

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Epilepsy Drug Can Cause Metabolic Acidosis

24 Feb

Today the FDA posted on its website that treatment with the epilepsy drug Zonegran (generic is zonisamide) can cause metabolic acidosis. Zonegran’s label is supposed to be updated with this new warning and recommends that patients have certain blood tests before starting treatment and periodically during treatment to check for acidosis.

This new warning is especially important to the mitochondrial community since metabolic acidosis is something that must be avoided, and a medication that could increase the odds of that condition needs to be watched closely. If you or someone you know has mitochondrial dysfunction or disease and is taking zonegran for epilepsy, have them discuss this new finding with their doctor.

You can read the FDA’s article here.

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Vaccines and Mitochondrial Disease

12 Dec

The Vaccine Research Center at Boston University Medical Center through the Department of Pediatrics and Section of Pediatric Infectious Disease has started a pilot study to better understand the safety and efficacy of vaccines in patients who have mitochondrial disorders.

This study could prove to be very important. Recently, a high profile vaccine case was in the news. Hannah Poling’s case was one of the first where the federal government admitted that her autism was more than likely caused by vaccinations she received as a toddler. The spin on the case, however, was that the government and the doctors determined that due to an unknown mitochondrial dysfunction that Hannah had, the stress from multiple vaccinations at the same time “overrode” her system, more or less, and “triggered” the autistic tendencies from a neurological standpoint.

Ever since that case, anti-vaccine advocates have pointed to it indicating that vaccines CAN cause autism. Most doctors and the CDC take a step back from there and state that this was an isolated case and that most children do not have mitochondrial dysfunctions that could result in the same situation.

Nonetheless, due to this case, and the stress that vaccinations can cause the body as it attempts to fight off the disease-invaders, the relationship between mitochondrial disease (or even just dysfunction) and vaccinations (especially in children) is an area that needs more study and research. To that end, this study appears to start to address some of those issues. If you, or someone you know, has a child with mitochondrial disease, encourage them to contact the Vaccine Research Center at Boston University Medical Center. The only way to determine whether autism, or any other neurological or biological problem, is more likely to result with vaccinations in mito children, is research such as this.

The actual time and effort that anyone has to put into this study is minimal, at best. The information on the study states:

We want to look at the vaccine histories and medical records of patients with mitochondrial disorders to better understand the relationship between infections, vaccines and mitochondrial disease. If you would like to participate in this study, we will talk with you over the telephone and ask you some questions about your child’s visits to the doctor and vaccine records. Then, if you agree to participate, we will send you a form to sign asking for permission to look at your child’s medical record and vaccine history.

Contact information for the study is:

Marissa Black
Boston University Medical Center
The Vaccine Research Center
Department of Pediatrics; Section of Pediatric Infectious Disease
Boston, MA 02118
marissab (‘at’) bu (‘dot’) edu

You can also get more information here at .

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To CoQ10 or Not To CoQ10 . . .

26 Oct

One of the first supplements that patients with mitochondrial disorders are prescribed is CoQ10, also known as Coenzyme Q10 or ubiquinone. The main reason that CoQ10 is so highly relied upon with mitochondrial dysfunction is that it is such a major player in cell function and the production of ATP – the actual “energy” that the mitochondria make on which our cells run.

As you know, there is no cure or specific treatment for mitochondrial dysfunction, but many clinicians believe that the use of high-dose CoQ10 with their patients may, at the least, slow the degeneration of the mitochondria and stabilize bodily functions in those disorders. While the research to support this hypothesis is not overwhelming, there are more and more research papers which tend to support the use of CoQ10 in mitochondrial disorders.

One such paper states:

. . . that oral administration of coenzyme Q10 increases both brain and brain mitochondrial concentrations. They provide further evidence that coenzyme Q10 can exert neuroprotective effects that might be useful in the treatment of neurodegenerative diseases.

Coenzyme Q10 administration increases brain mitochondrial concentrations and exerts neuroprotective effects. Proc. Natl. Acad. Sci. USA, Vol. 95, pp. 8892–8897, July 1998.

On a more personal level, my daughter has been taking CoQ10 for almost two years now – ever since she was diagnosed with Complex I OXPHOS mitochondrial disorder. While I have not seen major improvements in her condition, I also have seen that, at least in her case, her cognitive and developmental abilities have continued to improve as she has gotten older – even when faced with severe regressions in the face of both illness and progression of her disease. I don’t want to roll the dice to find out if it makes a difference by stopping CoQ10 supplementation.

There is a clinical trial currently underway, however, that will hopefully shed even more light on this subject and is specific to mitochondrial dysfunction. The study was started in 2007 and has an anticipated completion date of May, 2009. There are three main objectives of the multicenter, prospective, randomized, double-blind, placebo controlled crossover trial of oral CoQ10 in children with biochemically proven deficiencies of complex I, III or IV:

1) Proving that supplementation of CoQ10 is safe and more effective in improving outcomes than a placebo.

2) Determining the effectiveness of CoQ10 in improving motor function and quality of life for the population.

3) Determining the safety of CoQ10 supplementation on the target population.

This clinical study is also supported in part by the National Institutes of Health.

My hope for this study? That CoQ10 will FINALLY be accepted as a medically significant treatment for children with mitochondrial disease and its cost will be covered by insurance companies, most of whom currently view CoQ10 as a “supplement” and “experimental” and not supported by peer reviewed literature and research.

So, to answer my question… we will be continuing CoQ10 . . .

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