LHON diagnosis: Opening peoples’ eyes to the invisible suffering of LHON patients
Santhera is putting patient needs at the heart of its rare disease speciality business. Chief Executive Officer Thomas Meier, PhD, talks about the company’s mission – and how rationalising Europe’s drug review systems could help patients.
When Fabrizio Sottile went blind at the age of 17, he thought his dreams of becoming a world-class swimmer were over. But he wasn’t about to let Leber’s hereditary optic neuropathy (LHON) stand in his way, and he made his first appearance as part of Italy’s Paralympic team in 2016, aged 23.
Vanessa dos Reis Ferreira is head of Patient Advocacy Europe at Santhera and a rare disease specialist. Here she describes how her company is focused on understanding patient needs to develop and bring to market the best possible medicines.
As Rare Disease Day approaches on 28 February, Santhera has created an infographic explaining the signs and symptoms of the rare disease Leber’s hereditary optic neuropathy (LHON), a progressive eye disease that results in blindness.
LHON is a frequently misdiagnosed condition that needs faster diagnosis.