Abstract
Purpose :
LHON is a mitochondrial genetic disorder causing a severe, progressive, bilateral loss of VA. Idebenone is the only treatment for LHON currently approved in Europe. Due to the rarity of the disease, information about long-term outcome in patients starting treatment > 12 months since disease onset in the most recent eye (chronic LHON) is scarce. Here we report the outcomes from an international Expanded Access Program (EAP) of idebenone in the sub-group of patients with chronic LHON
Methods :
The EAP was established to provide access to idebenone at the approved dose of 900 mg/day to individual LHON patients in routine clinical practice. All physicians were requested to establish their patient’s logMAR VA baseline prior to the administration using the Early Treatment Diabetic Retinopathy Study (ETDRS) chart. VA assessments were conducted at regular clinic visits. The Chronic Patients Cohort (CPC) was defined as patients with at least 1 post-Baseline VA assessment and time since symptoms onset in the most recent eye >12 months at the start of treatment. Clinically Relevant Recovery (CRR) was defined as an improvement from off-chart to on-chart vision by the equivalent of at least 1 full line in the ETDRS chart or an improvement in on-chart vision by at least 2 lines
Results :
Among 111 patients included in the EAP, 9 (18 eyes; all primary mutations) fulfilled the CPC criteria. Six of the 9 patients were male and 7 were carriers of the G11778A mutation, which is considered of severe prognosis. The CPC had a time since symptom onset in the most recent affected eye ranging between 13.5 months and 11.1 years at baseline, with a median of 20 months. At the last visit (LV), after a median treatment time of 33.7 (14.4-54.3) months, CRR from Nadir was observed in 9 eyes (50.0%) and 6 patients (66.7%); 5 out of 7 (71.4%) carriers of the G11788A mutation had CRR from Nadir. While some eyes required up to 42.9 months of treatment to reach a CRR, median time to CRR was 8.5 months. Median magnitude of improvement from Nadir was 12 ETDRS letters at time of CRR and 16 ETDRS letters at LV, with a maximum gain of 52 letters
Conclusions :
Although limited by the small numbers, these results shed important light on the potential role of idebenone in chronic LHON patients starting treatment after >12 months since symptom onset in the most recent affected eye
This is a 2020 ARVO Annual Meeting abstract.