The main criteria for participation
The MétabOCT study is recruiting people aged 18 to 60 years at the George Pompidou European Hospital in Paris, who carry one of the three mitochondrial DNA mutations (11778, 3460, 14484) associated with Leber hereditary optic neuropathy (LHON) and who have normal visual acuity at the time of inclusion, as well as adults who do not have these mutations and have not had optic neuropathy.
The objective
This is a so-called “observational” study that aims to determine the metabolomic profiles – in other words the different chemical compositions – of blood, tears and white blood cells, as well as the levels of vitamins B3 and B9, specific to healthy carriers of one of the NOHL mutations (compared to “control” participants), according to their sex and the thickness of their optic nerve.
The researchers hope to identify biomarkers capable of indicating very early, well before the decline in visual acuity, the existence of lesions in the optic nerve, which would make it possible to treat carriers of NOHL mutations before these lesions become too severe.
In practice
The study lasts one year. Upon inclusion, visual acuity and optic nerve thickness are assessed using optical coherence tomography (OCT). Blood and tear samples will also be taken. Visual acuity and optic nerve condition will then be regularly reassessed for one year. The blood and tear tests will be performed at the same time, once all participants have been included.
The study is being conducted at the George Pompidou European Hospital in Paris.
Where are we?
Recruitment is underway.
Contacts :
Christophe Orssaud (Georges Pompidou European Hospital – HEGP – Paris)
Tel. : 01 56 09 34 98
Dominique Bremond Gignac (Georges Pompidou European Hospital – HEGP – Paris)
Tel. : 01 44 49 45 02