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Clinical trials for LHON in the US

  • 1.  Clinical trials for LHON in the US

    Posted 09-11-2025 22:03

    Hi,

    This is so unusual – I have seen 3 men in the past week who I think have LHON (and my denominator is small). Genetic testing was ordered on all of them.

    I looked on clincaltrials.gov and did not see any trials that are currently recruiting in the U.S.

    If you are aware of any clinical trials currently looking for participants, please contact me privately.

    Also, if you can recommend a reputable source for idebenone, I would like to pass the information on to my patients.

    Thank you!

    Deb

    DeborahFriedman@tx.rr.com

     



  • 2.  RE: Clinical trials for LHON in the US

    Posted 09-12-2025 16:24
    Yep.  No trials at the moment and the trials in the pipeline are being prepared very slowly.  Just Google Idebenone and LHON.  Most of my patients end up using HBC or Relentless (for the record, they buy it directly; we don't prescribe it).

    Alfredo





  • 3.  RE: Clinical trials for LHON in the US

    Posted 09-12-2025 16:53

    Bummer about the trials. Thanks, Alfredo!

    Deb




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  • 4.  RE: Clinical trials for LHON in the US

    Posted 09-12-2025 20:18



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  • 5.  RE: Clinical trials for LHON in the US

    Posted 09-19-2025 11:54
    Along the same lines:
    Are there antibiotics you ask carrier if the mutation to avoid- other than Ethambutol and Linezolid.

    Thanks!

    Sangeeta 



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  • 6.  RE: Clinical trials for LHON in the US

    Posted 12-02-2025 14:10

    Hello Dr. Sadun,

    I am currently caring for a patient I suspect has LHON. I briefly discussed vitamin supplements with our hospital pharmacist and she pointed out this statement from UpToDate under Cyanocobalamin (vitamin B12): Drug information. 

    "Leber disease: Patients with Leber disease who received vitamin B12 treatment have suffered from severe rapid optic atrophy. Use of cyanocobalamin in these patients is not recommended." 

    I had never heard of this, and could not find references. It also seems to be on product packaging per the FDA website.

    https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/080737Orig1s040lbl.pdf

    Curious to know your thoughts on this? 

    Thanks,

    Cinthi 

    -------------------------------------------

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  • 7.  RE: Clinical trials for LHON in the US

    Posted 12-02-2025 14:20
    I have always been fond of the pharmacological adage, "It's not the poison, it's the dose."  The amount of cyanide in cyanocobalamin is so little as to be negligible.    The cases of LHON that showed optic atrophy after cyanocobalamin would have shown the same without the treatment as well.  The subacute stage of LHON shows the greatest amount of RNFL reduction (mostly resolution of swelling as well as optic atrophy) to occur 4-8 months after visual loss.  It's the nature of the beast, not the poison effect of cyanide.

    --Alfredo





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  • 8.  RE: Clinical trials for LHON in the US

    Posted 12-02-2025 14:24
    Simmons Lessell wrote about this issue years ago. He pointed out what Alfredo said; ie, the dose of cyanide in cyanocobalamin is orders of magnitude too small to cause any damage to the optic nerve.



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  • 9.  RE: Clinical trials for LHON in the US

    Posted 12-02-2025 15:45
    I emailed UpToDate to update this statement, but I'm not sure if they will if it's on the FDA drug info website. The pharmacist didn't want to give the patient B12 supplements because of this.





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  • 10.  RE: Clinical trials for LHON in the US

    Posted 12-02-2025 17:43

    Most of the information regarding cyanocobalamin and Leber's stems from old literature that showed elevated cyanide levels in individuals with Leber's and suggested that they metabolized cyanide poorly and had chronic cyanide poisoning as a cause of their disorder.  This is one such reference for your information.  There are a number of other isolated case reports, but nothing substantive. 

     

    Br Med J. 1973 Jan 27;1(5847):231–232. doi: 10.1136/bmj.1.5847.231-b

    Thiocyanate metabolism in human vitamin B12 deficiency.

     

    But the information is old, preceding mitochondrial testing in the 80's and has never been updated.   It is also reported in the Canadian Compendium of Pharmaceuticals and Specialties (CPS), which pharmacists in Canada rely upon. 

     

    Hydroxycobalamin injection was available and quite reasonably priced from Watson Pharmaceuticals. It was simple to substitute if you had concerns, but they stopped making it a few years ago.  It is now only available from France and therefore has to be imported.  So, if the pharmacist does not want to supply the cyanocobalamin injection, have them import hydroxycobalamin (Dodecavit--Serb Pharmaceuticals). Maybe that will change their minds?

     

    For most patients with B12 deficiency (with or without Leber's), oral methylcobalamin 2000 mcg per day is sufficient to maintain B12 and avoids the problem of the cyano moiety in either oral or parenteral preparations.  Most patients don't really need the parenteral. 

     

    _________________________________________

    Janine L. Johnston BScPharm., MD FRCPC FAAN




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  • 11.  RE: Clinical trials for LHON in the US

    Posted 12-04-2025 07:39
    There are many supplement companies that sell methylcobalamin; while cyanide is in microscopic quantities, why not take cobalamin that's attached to a methyl group, a far more important group necessary for so many important cellular biochemical reactions. It's not more expensive either and wastes less metabolic energy. 
    +=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=
    Scott Forman, MD
    Senior Fellow North American Neuro-ophthalmology Society

    Adult and Pediatric Neuro-ophthalmology
    Comprehensive Ophthalmology
    Functional Medicine












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  • 12.  RE: Clinical trials for LHON in the US

    Posted 12-04-2025 08:16
    In mt practice I have using vitamins and co enzyme Q10 with different ages in LHON , nutritional and toxic neuropathies , over decades I have never met a case with even suspected toxicity or even overdose symptoms , and with variable improvements , without Idebenone , for being not available and too expensive for here, So clinical practice revokes that there is an issue in this area , sometimes I do vitamin be levels and comes over the normal range but no signs of any toxicity , usually I reduce the dose gradually in those case



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  • 13.  RE: Clinical trials for LHON in the US

    Posted 09-12-2025 16:56
    Chemistry Rx is a compounding pharmacy that has idebenone they can make into capsules of different doses. They also have staff that will run prior auths through insurance. I am in the process of doing this for the first time so not sure how it will turn out but it’s the only pharmacy that has offered this.

    Bobby Goodrich MD
    Wake Forest




  • 14.  RE: Clinical trials for LHON in the US

    Posted 09-12-2025 20:17



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