Nearly blind in their mid-twenties

LHON is a hereditary disease characterised by a sudden loss of visual acuity, often within a few days or weeks. It is particularly tragic that it mainly affects adolescents and young adults, aged between 15 and 35 years. In addition to the loss of visual acuity, there are also central visual field losses (central scotoma), a limited perception of contrasts and colours, as well as a higher sensitivity to light. After only three months, those affected by the disease often have only 10% of their original vision.

As it's often the case with other rare diseases, the correct diagnosis of LHON is a major challenge for many ophthalmologists. Often, several unnecessary examinations are performed to rule out other eye diseases, such as optic neuritis in multiple sclerosis. In addition, on the way to a confirmed diagnosis, patients are often told that it is an eye inflammation or that they should not worry, they will be able to see again in a few days. Finally, after a long and often nerve-racking journey, the LHON disease can be determined with the help of a molecular genetic diagnosis.

Currently, in addition to the treatment of symptoms, such as visual aids, orientation tools or disease-related counselling on everyday issues, there is only one drug therapy on the German market that can bring about an improvement in visual acuity (this is Raxone®). Another gene therapy is currently in the approval phase (Lumevoq®), which is awaiting a decision from the EMA in the middle of 2023. For the best possible therapy success, early diagnosis and start of treatment is of great importance. Under certain circumstances, a few affected people experience a slight spontaneous improvement in their vision without further therapy. However, these few cases are usually an exception.

At SKC, we are supporting our clients to bring new innovative therapies for patients with rare diseases to the German healthcare market. We are the market access special forces.

Sources:
PRO RETINA: Leber'sche Hereditäre Optikus-Neuropathie
LHON Deutschland e.V.: Was ist LHON?