Information up-to-date as of February 2022
Research is ongoing to find treatments for LHON. Treatments with the most research are explained below. Visit the section ‘New treatments being researched’ to learn more about the newest developments in LHON treatments.
Antioxidants and idebenone
The idea of using antioxidants in the treatment of mitochondrial disease has been around for some time. The theory is that antioxidants may reduce stress on your mitochondria, meaning that they can work better. There are many antioxidants and one of these is a substance called coenzyme Q10 (CoQ10).
CoQ10 has been known to help in other mitochondrial diseases and there have been a few cases of it seeming to help in LHON. However, at the moment, there is not enough evidence supporting the use of antioxidants in the treatment of LHON.
One reason for this is that there is a protective barrier stopping many substances, including CoQ10, moving from the blood into the brain. This means that if you take CoQ10 by mouth, not much will reach your optic nerve and eye. Therefore, it is generally thought that any effect it may have in treating LHON would be limited.
However, there is a treatment called idebenone (trade names Catena®, Raxone®) that is often described as a man-made equivalent of CoQ10. This man-made version can get to the optic nerve more easily.
Idebenone is a drug that was initially developed by Takeda Pharmaceuticals (under the trade name Sovrima®) for the treatment of Alzheimer's disease. The Swiss company Santhera Pharmaceuticals then started to investigate it for the treatment of neuromuscular diseases. The first use of idebenone to treat LHON dates back to 1992 where it improved the vision of an affected 10-year-old boy.
Research of idebenone
A clinical trial of idebenone in LHON, which included 85 patients and had a treatment duration of 6 months, showed that people who had different visual acuity between both eyes were the most likely to benefit from treatment with idebenone. Visual acuity is a measurement describing how clearly someone can see, often tested by reading letters of different sizes on a chart. However, based on the available data it is not possible to estimate how likely it is for an individual to benefit from idebenone treatment.
The study also showed that patients with the 11778 and 3460 mutations are more likely to benefit from idebenone. The treatment effect was less obvious in patients with the 14484 mutation,
as there is already a higher likelihood of vision recovery without therapy in these patients. Visit ‘Genetics of LHON’ to learn more about the genetics and mutations involved in LHON.
Further research has shown that the beneficial effect from 6 months of treatment with idebenone lasted for years afterwards. The research also suggests that idebenone therapy is likely to have more of an impact if it is started soon after the start of symptoms. Studies also indicate that prolonged treatment (longer than 6 months) could result in recovery of vision even in patients with established condition and more severe vision loss.
As of 2021, there is an ongoing study that is looking at the long-term use of idebenone in LHON.
Approval of idebenone
Santhera submitted an application to market idebenone to European regulators in July 2011. Unfortunately, in January 2013, the request for marketing authorisation was refused by the European Medicines Agency (EMA). Following the submission, a revised application and further evidence by Santhera, the EMA issued a recommendation for approval in July 2015 under their “Exceptional Circumstances” programme and their recommendation was adopted by the European Commission in September 2015.
There was an international consensus in 2016 where experts agreed that idebanone should be started as soon as possible and within 1 year of vision loss starting.
NHS England has reviewed the evidence prepared by NICE to treat visual impairment in people with LHON and have concluded that there is not enough evidence to consider making the treatment available in England before the link NICE’s Clinical Commissioning Policy: Idebenone for treating people over 12 years of age with Leber’s Hereditary Optic Neuropathy
Idebenone (Raxone) is available for restricted use in Scotland https://www.scottishmedicines.org.uk/medicines-advice/idebenone-raxone-fullsubmission-122617/
And available for use in Wales https://awmsg.nhs.wales/files/appraisals-asar-far/final-recommendation-idebenone-raxone-807/
Low vision rehabilitation
Low vision rehabilitation (sometimes shortened to LVR) is a good option for people affected by LHON who still have some peripheral vision. With this kind of rehabilitation, you are taught ways to adapt and use the remaining vision in the best way. LVR can also help in learning how to use assistive technologies or visual aids.
Genetic counselling can help you adapt to being diagnosed with a genetic condition such as LHON. It can help you understand what it means for you and your family, including what it could mean for any children you may have.
LHON is passed down to
children by mothers who carry the mutated gene in mitochondria. This is called maternal
inheritance as only egg cells contribute mitochondria to a developing
embryo during pregnancy. If a mother has one of the LHON mitochondrial genetic
mutations, then so will all her children. LHON cannot be passed down by
fathers. Visit ‘Genetics of LHON’ to learn more about the genetics involved in LHON.
Genetic counselling in LHON is difficult because genetic testing cannot predict the age that someone will be affected, whether they will be affected or not, or how severely they may be affected.
You can carry a mitochondrial mutation without experiencing any signs or symptoms of vision loss. This makes it hard to predict which members of a family who carry a mutation will eventually develop symptoms. However, it is important to realise that most people do not go completely blind, and your peripheral vision often allows you to lead an independent life.
Mitochondrial replacement therapy (MRT)
If you are a carrier looking to start or grow your family and are concerned about passing your LHON mutation to future children, there is a treatment called MRT that might be an option for you. MRT is a treatment which replaces faulty mitochondria in your eggs with those from a healthy donor. This prevents mitochondria conditions from being passed from mother to child, but it is not a therapy for carriers or patients with LHON.
To learn more about MRT, visit the HFEA website.