Active clinical trials for "Optic Atrophy"

Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. The purpose of this study is to assess the safety and tolerability of dantrolene sodium in patients with Wolfram syndrome. In addition, we will assess the efficacy of dantrolene sodium on the cardinal manifestations of Wolfram syndrome, including visual acuity, remaining beta cell functions, and neurological functions. There is a screening period up to 56 days, a 6-month treatment period with an optional extension phase up to 24 months, and a 4-week safety follow-up period. Study assessments include medical & medication history, physical exams, neurological exams, eye exams, endocrine exams, vital signs, height, weight, electrocardiograms, blood and urine tests, pregnancy test if applicable, and questionnaires.

Transcorneal stimulation may enable neurons to survive degeneration processes via enhanced secretion of neurotrophic substances and direct stimulation of neurons.

This is an open-label, dose escalation, safety, tolerability and pharmacokinetic study, where active study drug (QPI-1007) will be given to all patients who participate. This study will determine whether QPI-1007 is safe when it is injected into the eye. The study will also reveal if there are any side effects of the drug and how long it takes for the body to clear the drug.

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.

This is a Single arm, Single centre trial to check the safety and efficacy of bone marrow derived autologous mono nuclear cell(100 millions per dose )clinical trial to be conducted for 36 months in patients with optic nerve diseases.

Blindness can be caused by many ocular diseases, such as diabetic retinopathy, retinal vein occlusion, age-related macular degeneration, pathologic myopia and glaucoma. Without timely diagnosis and adequate medical intervention, the visual impairment can become a great burden on individuals as well as the society. It is estimated that China has 110 million patients under the attack of diabetes, 180 million patients with hypertension, 120 million patients suffering from high myopia and 200 million people over 60 years old, which suggest a huge population at the risk of blindness. Despite of this crisis in public health, our society has no more than 3,000 ophthalmologists majoring in fundus oculi disease currently. As most of them assembling in metropolitan cities, health system in this field is frail in primary hospitals. Owing to this unreasonable distribution of medical resources, providing medical service to hundreds of millions of potential patients threatened with blindness is almost impossible. To solve this problem, this software (MCS) was developed as a computer-aided diagnosis to help junior ophthalmologists to detect 13 major retina diseases from color fundus photographs. This study has been designed to validate the safety and efficiency of this device.

Optic atrophy type 1(OPA1) is a nuclear dynamin-related GTPase, targeted to the inner mitochondrial membrane, which plays a role in mitochondrial fusion. Mitochondria fusion is associated with process of apoptosis. . OPA1 plays an important role in the mitochondrial bioenergetics and mitochondrial networks. The changes in mitochondrial shape and mitochondrial bioenergetics may be cause of the disease. In this study, we investigate the expression of OPA1 in lung adenocarcinoma (LADC) cells and tissue.

The purpose of this study is to determine the anatomy of the retina and the optic nerve in patients with autosomal dominant optic atrophy (ADOA). Based on these findings the aim of the study is to determine why patients with the same type of genetic material, i.e. the same mutation, have such large variations of symptoms, spanning from unaffected subjects to blindness. The project requires examination of both healthy and affected family members.