Orphanet J Rare Dis

BACKRGROUND: Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber's hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multicenter pilot study. Only LHON patients aged 18 years or more, with confirmed primary mitochondrial DNA mutations and strictly unilateral optic neuropathy occurring within 6 months prior to enrolment, were included in the study. All these patients, receiving treatment with oral cyclosporine (Neoral(R), Novartis) at 2.5 mg/kg/day, were examined at three-month intervals for a year. The primary endpoint was the best corrected visual acuity in the unaffected eye; the secondary endpoints were the best corrected visual acuity in the first eye affected, the mean visual field defect on automated perimetry, the thickness of the perifoveal retinal ganglion cell inner plexiform layer, and the thickness of the peripapillary retinal nerve fiber layer in both eyes. RESULTS: Among the 24 patients referred to our institution with genetically confirmed LHON, between July 2011 and April 2014, only five patients, four males and one female, fulfilled the inclusion criteria. Age at enrolment ranged from 19 to 42 years (mean: 27.2 years; median: 26 years), four patients harbored the m.11778G > A pathogenic variant, and one the m.14484 T > C pathogenic variant. The time-interval between the onset of symptoms and inclusion in the study ranged from 7 to 17 weeks (mean: 11.8 weeks; median: 9 weeks). Despite treatment with oral cyclosporine A, all patients eventually experienced bilateral eye involvement, occurring within 11-65 weeks after the initiation of treatment. Over the study time period, the average best corrected visual acuity worsened in the first eye affected; by the end of the study, both eyes were equally affected. CONCLUSIONS: Oral cyclosporine, at 2.5 mg/kg/day, did not prevent second-eye involvement in patients with strictly unilateral Leber's hereditary optic neuropathy. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02176733 . Registrated June 25, 2014

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

International audienc

Transdisciplinary innovation in irrigated smallholder agriculture in Africa

SIInternational audienceBoosting the productivity of smallholder farming systems continues to be a major need in Africa. Challenges relating to how to improve irrigation are multi‐factor and multisectoral, and they involve a broad range of actors who must interact to reach decisions collectively. We provide a systematic reflection on findings from the research project EAU4Food, which adopted a transdisciplinary approach to irrigation for food security research in five case studies in Ethiopia, Mali, Mozambique, South Africa and Tunisia. The EAU4Food experiences emphasize that actual innovation at irrigated smallholder farm level remains limited without sufficient improvement of the enabling environment and taking note of the wider political economy environment. Most project partners felt at the end of the project that the transdisciplinary approach has indeed enriched the research process by providing different and multiple insights from actors outside the academic field. Local capacity to facilitate transdisciplinary research and engagement with practitioners was developed and could support the continuation and scaling up of the approach. Future projects may benefit from a longer time frame to allow for deeper exchange of lessons learned among different stakeholders and a dedicated effort to analyse possible improvements of the enabling environment from the beginning of the research process. © 2020 The Authors. Irrigation and Drainage published by John Wiley & Sons Ltd on behalf of International Commission for Irrigation and Drainag