Leigh syndrome – where are those mitochondria replacement therapies?

Dear Sir: I came across your blog after reading Stanley Bing’s recent article in Fortune Magazine. I will try to be brief.

I have a 4 year old son who was diagnosed 1.5 years ago with a form of Leigh’s disease; one of the most devastating forms of mitochondrial disease. While he is receiving care from some of the most experienced doctors in the area of mito disease, as you are probably aware the general approach is to prescribe a vitamin regimen and “keep him comfortable.” That is to say, there is no cure or treatment for the disease, and the few centers that are researching the disease are not close to finding one. Since the disease is degenerative, this is a hard pill to swallow.

I am writing to you in hopes that you can recommend doctors or research centers that are applying experimental techniques to treat the disease through systemic regmed, stem cell or other methods. If I wait for traditional medicine to find a treatment (and especially the FDA), I fear it may be too late for my son.

Any help or advice would be appreciated.

Best regards –

Joe Mileti
[miletijoe][at][hotmail.com]

Dear Mr. Mileti,

thanks for your honest mail. The kind of organellar, mitochondrial therapy that would be needed in order to replace the damaged mitochondria or mitochondrial DNA in the brain stem in case of Leigh’s disease is not existing even experimentally at this moment as far as I know. (Update: I hope I am wrong.)
As I am not a doctor, just a researcher, I am not allowed to suggest any type of therapy or treatment. All I can do at this point is to post your email on my blog with your contact so that people who are more competent than me, can read it.

Just like in this case:

Bill Dye’s hope for an early regenerative medicine therapy! Please help.

So may I publish your whole mail with your contact info?

Best,
Attila Csordas

Yes, you can post, although my expectations are low in terms of anything new in this area. Thanks for your help and good luck with your research.

Joe

Have you checked this: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256000

Leigh syndrome could be due to mtDNA or nuclear DNA (autosome or X-linked). What was the genetical diagnosis? It doesn’t help concerning the cure if we know this, though.

My son has a mutation in his mtDNA ATPase 6 gene at position C8578T. The doctors are quite certain this is the cause of his disease, although this mutation is a novel one, so there is no precedent.

PS: thanks for Gábor Zsurka for the link and advices.

20 thoughts on “Leigh syndrome – where are those mitochondria replacement therapies?

  1. Sorry Joe, although i know a few people still in clinical neurology research, I was not able to locate anyone doing any clinical trial work or even clinical research on Leigh Syndrome.

    I can’t imagine being in your situation and I will continue to keep looking.

  2. My daughter passed away of Leigh Syndrome in 1993, she was 3 and half and the disease took her from us within 2 weeks of the diagnosis. Back then I was told she was only the 3rd case in Canada. The first case being diagnosed in Canada was in 1932 and the second case was only 6months prior to us in the same city, of a little girl of only 9 months old who lived 5 months after the diagnosis. This is a very frustrating situation. Not enough research is made since there is not enough cases. Even though over the years it seams the disease is mutating. Joe do not hesitate to contact me for any help you may need. (manonj_helpin@comcast.net) I surf the net on a regular basis to try and find more development and research on this.
    Stay strong,

  3. Both of our sons have Leigh’s with the SURF-1 nuclear DNA mutation. We are always looking for stem cell infusion therapies (we have our sons cord blood). No luck anywhere. It is very frustrating. Mitochondrial diseases is children are more common than childhood luekemia. We are with little time left as they both a loding the battle. What can we do to help raise awareness of mito research on stem cell therapy?

  4. May be a long shot but have any of the doctors thought about Selective Kinase Receptor Modulators (SKRM)? Protein kinases contribute to the regulation of gene expression by interacting with transcription factors that are recruited to the regulatory regions of the genes. I’m not a doctor but just attended a nutritional conference where this was discussed as it pertains to modulating the epigenome.

  5. My son is 2 1/2 years old and was recently diagnosed with Leigh Syndrome. Prior to that he had completely normal, healthy development. He suddenly developed dizziness, ataxia and headaches. He could not support his trunk and became lethargic.

    We admitted him to Children’s Hospital, Los Angeles, October 30th, 2008, where all doctors were certain he had come down with a viral encephalopathy. 4 MRIs, 2 CT head scans, 1 CT body scan, 3 LPs, 3 EEGs and a leg muscle biopsy later, they ultimately could find no infection nor seizure activity but discovered abnormalities in his mitochondria. The diagnosis was officially given on December 5th, 2008.

    An important point is that 2 early tests were administered using propofol — we discovered that this normally safe anesthesia SIGNIFICANTLY decompensated our son. He went from simply being ataxic and lethargic to being completely comatose. He became apneic and had to be intubated. The 3rd MRI showed symmetrical lesions in my son’s cerebellum, throughout the brain stem, to the basal ganglia and temporal lobes. Cerebral atrophy was also present, though we are uncertain if this was due to fluid balance management to dry out the brain and relieve pressure, fat loss, or the disease process itself.

    My son now seems to be in a phase of ‘recovery’ — his last MRI showed less ‘swelling/lesions’, and he has ‘woken up’ – though we don’t believe he can see nor hear, we believe he can feel. His body went from stiff and resistant to hypotonic. He has sleep/wake cycles. We have spent the last 2 1/2 months in the ICU.

    We, too, are looking for a cure. If anyone has any information, however speculative, please pass it along. We also banked my son’s cord blood if that helps.

    Thanks in advance,
    Jenn

  6. Hello,
    I have a 3 year old daughter that has Mito Complex 1, we are unsure of her prognosis. She is doing well right now, although I can relate with all of you the frustrations of there NOT being a cure for this horrible disease. I spend a lot of my time in and out of Dr offices, Physical/Occupational/Speech Therapy for her. I actually saved my son’s cord blood so I am all for stem cell treatment, although I know it is not available. I had read some of you were interested in helping out to raise money to find a cure. I do not know if any of you know but there is the United Mitochondrial Disease Foundation. http://www.umdf.org you can become a member and help raise money to find a cure. I am in MN and one of the chapter leaders in Minnesota. It helps a little so I know I am raising money for a cure. Although, I still push for answers with my doctors, even though I know that they do not have them yet. There are some really exciting things that UMDF is doing in the upcoming year.
    The most important thing is that this June we are walking on the State Capitol to try and get some of the NIH money for research. Right now we only get about $10 million, that is nothing compared to what we need to figure this out. You can log onto http://www.umdf.org and go under the advocacy letter and send a letter to all your representatives. Send an email to all your friends and family and tell them to do it as well. It is super easy the letter is already typed and it has places for you to add your personal stuff. I need a cure for my daughter as I am sure you all feel the same way.
    Please email me if you have questions.
    Kalynn – kalynn.wendt@gmail.com

  7. Hi Kalynn,
    I just spoke to my doctor last night, my son has been diagnosed with Complex 1 as well. It appears that a high spike in Alanine and Glycine amino acids precipitates the Complex 1 deficiency. It seems that if a child is to come down with Leigh’s, then Complex 1 is the least dire, thank the Lord. Check with your doctors about the supplements your daughter is getting, and make sure there is Carnitine (and of course CoQ10) in the mix. Your doctor will better be able to tailor the dosage based upon your daughter’s needs, but mine is a proponent of a fine tuned approach containing a sufficient load of antioxidants, CoQ10, Carnitine, Pantothenic Acid, etc. He has a number of patients that are living virtually normal lives after 10+ years with Leigh’s. He also suggested to me that a diet with less vegetable fats and a bit more animal fat, Omega 3 fish oils, etc. can really help. And if our child gets sick, I should try baby advil instead of tylenol, since tylenol does not reduce inflammation.

    I am not providing medical advice, only sharing the counsel that was provided to me, in the hopes you find it enlightening. Please check with your doctor to see what’s right for your daughter.

    God Bless!
    Jenn

  8. Forgot to mention,
    (A) I’ve become recently active with the UMDF. I’ve donated $$ and recruited friends and family to the cause (via Facebook).
    (B) All the doctors I’ve spoken to suggest saving the cord blood, since there’s no present way to get the stem cells effectively to the brain yet. The solution is likely years down the road. An esteemed doctor told me, ‘We haven’t treated any children with mitochondrial syndromes with cord blood transplantation because (1) donor cells must be used, (2) chemotherapy has to be given to the child to prevent rejection of the donor cells, and (3) kids with mitochondrial syndromes cannot tolerate chemotherapy. Their cells cannot repair after that type of insult and the chemotherapy is lethal. We and others are trying to find ways to use lower doses and less toxic chemotherapy but haven’t been successful so far.

    Again, hope this helps!
    Jenn

  9. Hello Jenn,
    You mentioned supplements, Sonora is on CO Q 10 and Carnitine and Creatine, what are the other supplements that your son is getting? I will bring them up to my doctor. It seems like some of my doctors do not really believe in the supplements, I always bring up new ones to them for Sonora to try.
    How is your son doing?
    Kalynn

  10. Hi Kalynn,
    My son (12 kg) is getting the following supplements:
    – Carnitine 50 mg/kg/day = 600 mg/day = 200 mg TID
    – Thiamine 15 mg/kg/day = 180 mg/day = 60 mg TID
    – Riboflavin 15 mg/kg/day = 180 mg/day = 60 mg TID
    – CoQ10 10 mg/kg/day = 120 mg/day = 40 mg TID
    – Vitamin C 40 mg/kg/day = 480 mg/day = 160 mg TID
    – Vitamin E 15 IU/kg/day = 180 mg/day = 60 mg TID
    – Pantothenate 7.5 mg/kg/day = 90 mg/day = 30 mg TID
    – Lipoic Acid 7.5 mg/ kg/day = 90 mg/day = 30 mg TID

    I know there is varying belief in the effectiveness of supplements among doctors. I’m sure there is variability due to each patient’s condition.

    My son had a severe, ‘knife edge’ reaction to the onset of Leigh Syndrome symptoms. He started receiving supplements early November and has now begun regaining some of the neurological functions he had lost (breathing more on his own, stable heart rate, some motor control, fixing/following…) Our doctor told us it would take this long to start seeing any effect of the supplements. My son has a long way to go, but we are so thankful for the improvements we have thus far seen when things had looked so dire before.

    Feel free to run this supplement cocktail by your doctor before administering to Sonora. It has apparently worked well for many Leigh Syndrome Complex 1 patients, so I am hopeful.

    Best wishes,
    Jenn

  11. I’m not providing any medical advice either…This is only what I would do…I would look into something called M-state materials…(a man named David Hudson appears to be the one who has made the recent discovery appx. 30yrs ago)…but these things have been around for ages…to give you what I understand they are HEAVY DUTY versions of things like Colloidal Gold and Silver…I have used both of those and they worked WONDERFULLY for me. To those laws that keep healers from doing for FREE what others can’t even do for pay, I say we the people rip them a new and better one! One that puts responsibility BACK into democracies hands. May the Lord Jesus Christ bless you all as this information benefits you and ALL those dear people afflicted and affected by this horrible disease. May the end of this nasty disease be in clear sight for all our generation to grasp. On one final and positive note, the best page I’ve ever found in 1000’s hrs online research is this “the sick puppy saga” The woman who accomplished this amazing feat is one of the most beautiful people I’ve ever read about! Please google all that ladies works, and homepage! Jesus Bless you! & visit Doctoryourself.com for a great FREE website stacked with information.

  12. Yeah it’s me againm heres the NEXT best thing I could find for all your benefit (and again IM not offering medical advice – simply what I would do if in similar situation) Please google the full acticle its by “Copyright 2004, James Michael Howard, Fayetteville, Arkansas, U.S.A.”

    Soy stimulates DHEA. Well, a study was done which found “…marked enhancement of T-lymphocyte pyruvate
    dehydrogenase activities in both groups of study subjects following DHEA.” (J Soc Gynecol Investig 1994; 1: 74-8) It appears that substances that stimulate DHEA (soy) and DHEA, alone, may be beneficial in Leigh’s Disease. I suggest this may be worth considering. Anyway, these children have no real treatment and face a short life span characterized by a devastating course. I suggest DHEA should be tried as a treatment for these children.
    Microsurgery. 2003; 23(1): 49-55.
    That should really KICK this nasty evil disease right in the teeth and hopefully put it out for good from our universe. Sincerely -> ALEX!!!
    (darm thing is 7 yrs old where the hell are all the experts PULLYOURHEADOUTOFDARKNESS!
    STOP LETTING CHILDREN DIE and become true people that SAVE LIVES!!!

  13. Yeah the website that has the life saving information (with the sick puppy saga article) is RUBYSEMPORIUM.org
    Please enjoy this wonderful FREE info!

  14. Hi,

    my 2 1/2 year old son was diagnosed with LEIGH syndrome in Aug-11 and just now it seems that the origin is due to a mutation in the mtDNA, although there is no history of anything in my wife’s family. She was checked and no mutations were identified, so it seems a spontaneous mutation. My son is fine for now and we are actively doing therapies (OT/PT and Speach) as well as CoQ10, Levocarnitine and B50 Complex. His main problem is the loss of balance and sometimes tremors in his hand, but he seems to improve his motor skills (probably as a result of therapies and that he is growing and is stronger). We also have his stem cells and were wondering if there is any research going on to find a cure for this disease.
    Thanks
    Martin

  15. hey jenn my daughter is 5 yrs old and sounds to be identical to your son I would love to get in touch with you to find out who this doctor is please im desperate!!!!

  16. Hi Luz,
    Contact me at jnorman728@gmail.com. My doctor told me about significant progress being made with folinic acid and methionine for Leigh’s patients. My son is on them both now and is showing improvement.

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