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Active clinical trials for "Optic Atrophy"

Results 1-10 of 18

Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for Eye Diseases...

Eye DiseasesRetinitis Pigmentosa5 more

This trial will study the safety and efficacy of intravenous and sub-tenon delivery of cultured allogeneic adult umbilical cord derived mesenchymal stem cells for the treatment of Eye diseases

Recruiting12 enrollment criteria

Stem Cell Ophthalmology Treatment Study II

Retinal DiseaseAge-Related Macular Degeneration17 more

This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.

Recruiting12 enrollment criteria

Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study

Wolfram SyndromeDiabetes Mellitus4 more

In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type 2 diabetes mellitus. Aim 1. Establish and maintain a registry of patients with Wolfram syndrome. An Internet based registry will be employed to enroll participants with the clinical diagnosis of Wolfram syndrome (insulin dependent DM and bilateral OA). Clinical information regarding age of diagnosis and progression of the disease will be collated and analyzed to better define its natural history, along with potential metabolic phenotypes such as glucose intolerance of heterozygous parents and unaffected sibs. If not already completed, blood for WFS1 sequence analysis will be obtained on the participants (parents and sibs also for control purposes) and sent to a CLIA certified lab to define the mutation. This information will benefit patient families and referring physicians by providing a genetic diagnosis and where indicated. The Wolfram Syndrome Registry will foster international collaborations to more efficiently and systematically collect Wolfram syndrome patients and their clinical and experimental data.

Recruiting25 enrollment criteria

Natural History Study of FDXR Mutation-related Mitochondriopathy

Neurodegenerative DiseaseHereditary2 more

The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.

Recruiting6 enrollment criteria

Tolerance and Efficacy Nicotinamide (Vitamin B3) in Dominant Optic Atrophy OPA1

Nicotinamide Adverse Reaction

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.

Not yet recruiting16 enrollment criteria

Natural History Study of SLC25A46 Mutation-related Mitochondriopathy

Neurodegenerative DiseaseHereditary2 more

The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25 member 46 (SLC25A46) gene.

Recruiting6 enrollment criteria

Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias

Spastic Ataxia

The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.

Recruiting9 enrollment criteria

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford...

Rare DisordersUndiagnosed Disorders316 more

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Recruiting2 enrollment criteria

A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy...

Optic AtrophyHereditary1 more

Background Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited ocular disorder associated with a mutation in mtDNA . The common manifestation is visual loss which caused by the respiratory chain enzymes complex dysfunction resulting in increased oxidative stress enzymes production. Purpose To determine whether curcumin which is an antioxidant agent is beneficial to the patients with 11778 LHON mutation. Material and Method Seventy patients with 11778 LHON mutation were randomly treated with oral curcumin (500 mg/day) and placebo for 1 year. The visual acuity, computerized visual field, electrophysiologic parameters and oxidative stress enzymes in plasma were compared before and after treatment at 3, 6, and 12 months interval.

Completed2 enrollment criteria

Systemic Erythropoietin Injection in Patients Having Optic Atrophy

Optic Atrophy

The purpose of this treatment trial is to study the effect of systemic erythropoietin in patients having optic atrophy.

Completed2 enrollment criteria
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