Health Care Professionals


Santhera is passionate about medical science and about developing new medical treatments for patients with rare diseases. Our focus is on the development of treatments for neuromuscular and pulmonary diseases that currently lack treatment options.

Raxone in LHON: Background

Patients with Leber’s hereditary optic neuropathy (LHON) develop rapid vision loss that occurs in both eyes. Typically, there is sudden, abrupt, painless and profound loss of central vision in one eye, followed by loss of vision in the other eye 1 to 3 months later.1,2 LHON typically presents in young adult males, with an average age of disease onset between 27 and 34 years.3

The rapid loss of vision caused by LHON has a dramatic impact on the quality of life for patients, and is associated with considerable economic and social costs due to productivity loss, lower employment rates, income loss, or premature mortality.4,5

Raxone is the first and only approved treatment for LHON, and is indicated for the treatment of visual impairment in adolescent and adult patients with LHON.6

The efficacy and safety of Raxone in LHON patients have been studied in the RHODOS clinical trial and in an Expanded Access Program which together demonstrated that Raxone can prevent vision loss and promote clinically relevant recovery of visual acuity in patients with disease duration of up to 5 years.6–10

An early diagnosis of LHON offers patients the best chance for the treatment of their condition in the long term.1 There is a window of opportunity for the optimal treatment of LHON when retinal ganglion cells (RGCs) are still viable, meaning that Raxone should be initiated as soon as possible after symptom onset to maximize treatment response.11,12 Clinical data suggest that up to 50% of patients with disease duration of less than 1 year experience a clinically relevant recovery of visual acuity following Raxone treatment.7

The window of opportunity to treat LHON:

Causes of LHON

The majority of patients with LHON have one of three point mutations in their mitochondrial DNA.2,13,14 Family members of patients with LHON may also carry the disease mutation and may be at risk of blindness.2,13

A = adenine; C = cytosine; G = guanine; ND1–ND5 = NADH dehydrogenase/complex I subunits 1–5; T = thymine.

The primary LHON mutations affect complex I of the mitochondrial respiratory chain in RGCs.2,13 High energy electrons leak from the dysfunctional complex I, reducing the rate of electron flow. This leads to less proton pumping and eventually less adenosine triphosphate (ATP) production. As a result, the nerve cells lack the necessary energy to transmit the optical input from the eye to the brain.2,13

The excess of electrons can combine with oxygen, resulting in so-called reactive oxygen species (ROS). These are normal by-products of mitochondrial respiration, but at high concentrations they damage cells and can even lead to cell death.15 These effects lead to a dramatic initial loss of function, later followed by a decrease in the number of RGCs and profound loss of vision.1,13–17

The following infographic outlines some key facts about LHON. Feel free to download this and share.



Sadun AA, et al. Expert Rev Ophthalmol 2012; 7:251–259.


Yu-Wai-Man P, et al. J Med Genet 2009; 46:145–148.


OMIM. Leber Optic Atrophy. 2012. Accessed September 2015.


Kirkman MA, et al. Invest Ophthalmol Vis Sci 2009; 50:3112–3115.


Köberlein J, et al. BMJ Open 2013; 3:e003471.


Raxone SmPC, September 2015. Available: here. Accessed December 2015.


EMA. Assessment report: Raxone (idebenone). 2015.


Klopstock T, et al. Brain 2011; 134:2677–2686.


Metz G, et al. ARVO 2014 poster (Abstract 6206).


Carelli V, et al. Brain 2011; 134:e188.


Gueven N. Biol Med 2014; 6(S3):1–6.


Newman NJ. Nat Rev Neurol 2012; 8:545–556.


Yu-Wai-Man P, et al. Prog Retin Eye Res 2011; 30: 81–114.


Johns DR & Colby KA. Seminars in Ophthalmology 2002; 17:33–38.


Yu-Wai-Man P, et al. Eye (Lond) 2014; 28:521–537.


Mascialino B, et al. Eur J Ophthalmol 2012; 22:461–465.


Lyseng-Williamson, Adis Drug Evaluation, Drugs (DOI 10.1007/s40265-016-0574-3)

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