Leber Hereditary Optic Neuropathy
Conditions
Brief summary
The Leber Hereditary Optic Neuropathy is a genetic disorder caused by maternal transmission of mitochondrial DesoxiroboNucleid Acid mutations. It is manifested by a rapidly progressive blindness, profound, due to atrophic optic nerve. The visual loss is primarily unilateral bilateralisation taking place in the vast majority of cases in weeks or months. The neuro-cardio-protective properties of cyclosporine (and its analogs specifically targeting the anti-apoptotic mechanisms) are particularly promising. The investigators hypothesis is that cyclosporine may limit apoptosis during the acute phase of the disease process and would limit the loss of visual acuity and improve the visual prognosis of these patients.
Interventions
DRUGcyclosporine
Sponsors
University Hospital, Angers
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* patient with the mutation confirmed by molecular analysis * patient with a recent loss of monocular vision (≤ 6 months) * voluntarily Patient Consent
Exclusion criteria
* patient who have not given their written and informed consent signed * against indication of cyclosporine * no drug compliance to previous inclusion * no national health insurance affiliation * pregnant women or lactating * women who could become pregnant during the study period and with no contraception * private patients of their liberty by judicial or administrative decision, or patients under supervision
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Measurement of visual acuity with Monoyer, Early Treatment Diabetic Retinopathy Study and Parinaud scales | at 9 months |
Countries
France
Contacts
Primary ContactD Milea
Outcome results
None listed