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Optic Atrophy clinical trials

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NCT ID: NCT06461286 Not yet recruiting - Clinical trials for Autosomal Dominant Optic Atrophy

SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew)

Start date: July 2024
Phase: Phase 1
Study type: Interventional

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.

NCT ID: NCT06261424 Recruiting - Clinical trials for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Effects of a Supervised Rehabilitation Program on Disease Severity in Spastic Ataxias

Start date: February 1, 2024
Phase: N/A
Study type: Interventional

Spastic ataxias are a group of diseases causing symptoms such as walking difficulties and balance impairments that lead to a high risk of falls. No pharmacological treatments exist to treat these diseases. Unfortunately, little effort is made to develop non-pharmacological treatments specific to spastic ataxias despite the detrimental impact of the disease on several aspects of an individual's life and the high cost of falls for society each year. The three objectives of this project are: 1) to determine the effect of a 12-week rehabilitation program on disease severity as compared with usual care for individuals with spastic ataxias; 2) to identify which factors can help (or not) the implementation of the program in the clinical settings ("reel world"); and 3) to explore the cost-benefits of IMPACT [rehabIlitation prograM for sPAstiC aTaxias]. The team has developed the program to specifically target symptoms present in these patients and was previously pilot-tested. Based on the results obtained in this pilot project, positive effects are expected concerning the disease severity of participants. The investigators want, with this project, provide to health care professionals an option to offer better-suited services to people living with spastic ataxia worldwide.

NCT ID: NCT06140329 Recruiting - Clinical trials for Autosomal Dominant Optic Atrophy

Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation

Start date: February 28, 2024
Phase:
Study type: Observational

The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.

NCT ID: NCT06007391 Not yet recruiting - Clinical trials for Nicotinamide Adverse Reaction

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

NICOPA1-TOL
Start date: September 2023
Phase: Phase 2/Phase 3
Study type: Interventional

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.

NCT ID: NCT05147701 Recruiting - Glaucoma Clinical Trials

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

Start date: February 1, 2022
Phase: Phase 1
Study type: Interventional

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

NCT ID: NCT04723160 Completed - Clinical trials for Diabetic Retinopathy

Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph

Start date: August 10, 2020
Phase:
Study type: Observational

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.

NCT ID: NCT04680143 Completed - Optic Atrophy Clinical Trials

Systemic Erythropoietin Injection in Patients Having Optic Atrophy

Start date: September 1, 2020
Phase: Phase 1/Phase 2
Study type: Interventional

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

NCT ID: NCT04594590 Completed - Clinical trials for Mitochondrial Diseases

Natural History Study of SLC25A46 Mutation-related Mitochondriopathy

Start date: November 3, 2020
Phase:
Study type: Observational [Patient Registry]

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.

NCT ID: NCT04580979 Completed - Clinical trials for Mitochondrial Diseases

Natural History Study of FDXR Mutation-related Mitochondriopathy

Start date: November 3, 2020
Phase:
Study type: Observational [Patient Registry]

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.

NCT ID: NCT04297891 Recruiting - Spastic Ataxia Clinical Trials

Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias

SPAX-PBP
Start date: September 1, 2020
Phase:
Study type: Observational [Patient Registry]

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.