Optic nerve disorder

This study tests a new medicine called PYC-001, given as an injection into the eye, for people with a genetic condition that damages the optic nerve (OPA1 optic atrophy). The main goal is to check if the treatment is safe and tolerable. About 18 adults will receive a single dose,…

This early study tests whether QLS-111 eye drops can improve blood flow to the back of the eye in people with non-proliferative diabetic retinopathy or certain types of glaucoma. Fourteen participants will use the drops twice daily for two weeks. The main goal is to measure chang…

This study tests a new laser procedure called Direct Selective Laser Trabeculoplasty (DSLT) in 40 ethnic Chinese patients with glaucoma or high eye pressure. The laser aims to improve fluid drainage in the eye and reduce pressure. Researchers will check if the treatment is safe a…

This study compares a targeted drug called selumetinib to standard chemotherapy (carboplatin/vincristine) in children aged 2 to 21 with neurofibromatosis type 1 (NF1) and low-grade glioma, a type of brain tumor. The goal is to see if selumetinib works as well or better at control…

This trial is testing whether mebendazole, a drug commonly used to treat intestinal parasites, can help children with brain tumors called gliomas. The study combines mebendazole with standard chemotherapy drugs to see if it is safe and effective. It includes children and young ad…

This study tests whether high-dose nicotinamide (vitamin B3) is safe and can help people with dominant optic atrophy, a rare genetic disease that slowly damages the optic nerve and causes vision loss. Researchers will give 25 adults 3 grams of nicotinamide daily and monitor for s…

This study tests a new painless nerve growth factor eye drop (CHF6467) in 36 children and young adults with optic pathway glioma, a brain tumor that often causes vision loss. The goal is to see if the drops can protect or improve vision without the pain side effects of standard n…

This expanded access program gave a single patient with Leber Hereditary Optic Neuropathy (a genetic cause of vision loss) an experimental gene therapy called GS010. The treatment was injected into both eyes to test safety. Only one person was involved, so the results are very li…

This phase 3 trial tests a gene therapy called NR082 for Leber's hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. About 95 people aged 12 to 75 with a specific ND4 mutation will receive a single injection of the therapy or a sham procedure. T…

This study tests whether high-intensity interval training (HIIT) can improve eye health and slow disease progression in people with glaucoma. 168 adults aged 40-75 with open-angle glaucoma will be randomly assigned to either a supervised HIIT program or standard care with lifesty…

This study is testing a smartphone app called NEDS EyeCTester to see if it can help detect active eye disease early in people with conditions like optic nerve or macular disease. About 100 participants will use the app at home, and researchers will compare the results to standard…

This natural history study follows 259 children, adolescents, and adults with Neurofibromatosis Type 1 (NF1) for up to 10 years. Researchers will track tumor growth, monitor quality of life, and perform genetic testing to better understand how the disease changes over time. The g…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study follows 150 people with rare neuroimmunologic disorders like neuromyelitis optica and transverse myelitis. Researchers collect medical data and blood samples over time to learn what causes inflammation and why some patients respond to treatments while others do not. Th…

This study looks at how changing your body position or drinking water can cause temporary spikes in eye pressure. Researchers will measure these changes in healthy volunteers and in people with glaucoma or autonomic dysfunction. The goal is to better understand what challenges th…

This study is creating a large, long-term collection of blood samples and health information from over 3,200 people with multiple sclerosis and related demyelinating diseases, as well as healthy volunteers. The goal is to provide scientists with a shared resource to better unders…

This study looks at whether a lung-opening technique called alveolar recruitment manoeuvre (ARM) affects brain pressure during laparoscopic hysterectomy. Researchers will use ultrasound to measure the optic nerve sheath diameter, a noninvasive way to estimate intracranial pressur…