View clinical trials related to Optic Atrophy.
Filter by:A First-in-Human multi-centre, prospective, Phase1a, Single Ascending Dose (SAD) interventional study of PYC-001 in participants with confirmed OPA1 mutation (haploinsufficiency) associated ADOA.
Dominant Optic Atrophy (hereafter known as DOA) is a neurodegenerative pathology of the optic nerve inducing progressive loss of central visual field and visual acuity. There is currently no proven treatment for this disease. The metabolomics work of Pascal Reynier's team revealed a specific metabolomic signature of DOA in the plasma of patients. This metabolomic signature revealed a relative deficiency in nicotinamide compared to a control population, a vitamin compound (vitamin B3) known to be neuroprotective for the optic nerve and mitochondria. Note that the investigator have also identified this nicotinamide deficiency in primary open-angle glaucoma and Leber's hereditary optic neuropathy, the other most common cause of hereditary optic neuropathy, these three optic nerve conditions sharing a common pathophysiological mechanism of mitochondrial deficit. In addition, an American team demonstrated the high neuroprotective power on the optic nerve of nicotinamide in a mouse model of glaucoma. These arguments converge towards the potential therapeutic interest of this vitamin in degenerative pathologies of the optic nerve. This is encouraged by the fact that two randomized clinical trials have confirmed a benefit of nicotinamide in glaucoma. The objective of this pilot study is to test the tolerance and efficacy of nicotinamide in DOA and DOA+ patients.
Patients who are genetically diagnosed with the recently reported and rare Wolfram syndrome type 2 ( WFS2) and have the degenerative and symptomatic disease including signs such as diabetes, platelet aggregation defect or visual problems will be asked to participate in this study. Knowing the pathomechanism of WFS2 with rapid cell death, after doing baseline investigations to asses the severity of their disease, the participants will be offered a chelator therapy with in addition to the antioxidant Acetylcystein, in diabetic patients an Incertin (GLP-1 ) therapy will be offered as well. The baseline investigations will be repeated after 2 months and after 5 months of therapy in order to asses the progression of the disease and to show if the chelator and anti oxidant therapy and in diabetic patients the GLP-1 therapy could stop the progression of the disease.