Optic Neuritis

Researchers are investigating the effects of an investigational cold treatment device called ETX-4143 on the eyes surface anatomy and inflammatory response in people with chronic ocular surface pain COSP. This study aims to understand changes to corneal surface nerves and inflammatory mediators after treatment, while also evaluating the safety of this cooling device. The study involves detailed imaging and tear sample analysis to learn more about the condition and treatment impact. The ETX-4143 Device is a handheld cooling tool containing a frozen mixture that cools metallic probes touching the eyes conjunctival surface without direct contact with the frozen mixture. Before treatment, local anesthesia and a corneal shield are applied to protect the eye. Participants will receive a 4-minute cold treatment to the worse eye using this device. This single-center study will treat 5 adults with chronic ocular surface pain and follow them for 12 weeks. Participants will be screened for chronic ocular surface pain and will complete weekly eye pain questionnaires for 12 weeks. Clinic visits at 2, 6, and 12 weeks after treatment will include corneal surface imaging and tear sample collection. Both eyes will be assessed with confocal microscopy and tear osmolarity tests, using the untreated eye as a control. The main measurement is corneal nerve imaging analysis over the 12-week period, alongside safety monitoring by the medical team.

The GENESIS clinical study aims to map HLA genetic variation in the Greek population and evaluate possible correlations with selected underlying diseases. It is a multicenter, prospective, non-interventional clinical study targeting 12,000 subjects over an anticipated duration of 36 months, with the goal of creating a pilot HLA map for medical research and possible clinical applications. Each subject will complete one visit at a participating site and provide demographic information, including date of birth, gender, race, ancestry, height, and weight, as well as information about smoking or vaping, alcohol consumption, arterial blood pressure, diagnosed diseases, and current treatments. Recent clinical laboratory results from up to 12 months before sample collection may also be collected when available, including blood count, metabolic, liver enzyme, and biochemical parameters. Two buccal swabs will be collected from each subject for DNA extraction and HLA genotyping analysis. Selected DNA samples will also undergo low-pass whole genome sequencing to further investigate associations between the HLA region and autoimmune diseases. After the analysis is completed, an individualized ancestry report will be securely available to study subjects if they elect to access it.

Researchers are conducting a prospective, single-center observational study to understand the natural history, clinical features, and genetic spectrum of OPA1-associated autosomal dominant optic atrophy. This study focuses on tracking vision changes over time to better characterize disease severity and progression in affected individuals. Participants will undergo a range of standardized eye and functional tests, including visual acuity, visual field, color vision and contrast sensitivity testing, optical coherence tomography, retinal flavoprotein fluorescence imaging, and video-oculography-based eye movement and pupil assessments. These evaluations will be performed regularly at baseline and follow-up visits over up to 3 years to identify structural, metabolic, and functional biomarkers that could be useful endpoints in future treatment studies. During the study, participants will have multiple assessments of vision and retinal structure, including measurements of low-contrast visual acuity, contrast sensitivity, and retinal nerve fiber layer thickness. Researchers will monitor these changes over time to understand disease progression. Safety monitoring is inherent as this is an observational study with no investigational treatments, and participants will be followed for up to 3 years from enrollment.

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation DBS for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

This research aims to evaluate postoperative respiratory complications PORC in children with obstructive sleep apnea OSA who undergo adenotonsillectomy. It combines data from two centers University Hospital Antwerp and Heim Pal National Pediatric Institute in Hungary. The study examines how common these complications are and whether they vary according to different health conditions such as obesity, craniofacial malformations, Down syndrome, or neurological disorders that affect airway muscle tone. Data come from a retrospective analysis of electronic health records originally collected in two prospective studies. These records include children who had adenotonsillectomy for OSA, with postoperative care following a set protocol. The study looks at factors like the obstructive apnea-hypopnea index, oxygen levels during sleep studies, age at surgery, and presence of other health conditions to understand their relationship with PORC and to help develop a management plan. Participants information was collected without needing additional consent because it uses existing anonymized data. Researchers assess the prevalence of PORC within 24 hours after surgery and analyze how different factors affect this risk. This study does not involve new treatments but reviews existing data to improve postoperative care. The study includes children aged 1 to 18 years who had adenotonsillectomy for OSA, with follow-up limited to the immediate postoperative period.

Researchers are investigating the feasibility of producing artificial vision in people who are blind by using a device called the Intracortical Visual Prosthesis ICVP. This study aims to test the safety of the ICVP system and evaluate whether electrical stimulation of the brains visual processing areas can create visual percepts. The study involves participants with no light perception or very limited vision who have been blind for at least one year and have a history of normal or near-normal vision in early life. The intervention involves implanting wireless floating microelectrode arrays WFMAs into the visual cortex on one side of the brain. These devices deliver wirelessly transmitted electrical stimulation intended to induce artificial vision. Each participant will have multiple WFMA devices implanted. After surgical recovery, participants will undergo weekly testing for one to three years to assess the ability of electrical stimulation to generate visual percepts and evaluate the devices safety and efficacy. Participants will attend regular testing sessions to measure visual perception responses to stimulation and monitor safety outcomes. Researchers will perform assessments from two weeks after surgery through the entire device use period, up to three years. The primary outcome is the safety of the WFMA-based cortical interface, while secondary measures evaluate its effectiveness at producing visual percepts. The study includes video and audio recordings, cognitive and spatial functioning tests, and MRI scans. Participant involvement may last up to three years, with ongoing monitoring throughout the study.

Researchers are investigating epilepsy-dyskinesia syndromes, which are rare genetic diseases causing both movement disorders and epilepsy in children. This multinational retrospective survey, supported by the International Parkinson and Movement Disorder Society, aims to collect detailed clinical and molecular data to better understand these conditions. The study focuses on identifying patterns in disease features, progression, and genetic links to improve knowledge and support precision medicine. The study collects previously recorded data from multiple countries, harmonizing information on clinical features, disease progression, age of onset, genetic variants, and coexisting neurological conditions. By standardizing this data, the survey addresses challenges in rare disease research like small, dispersed patient groups and inconsistent protocols. The goal is to build a shared clinical database and analyze how movement and seizure disorders relate at both clinical and molecular levels. Participants are children aged 0 to 18 years with diagnosed movement disorders linked to specific genetic variants. The study reviews existing medical records and genetic information without new treatments or interventions. Researchers will assess the disease spectrum, how movement disorders affect quality of life, and the effectiveness of symptomatic treatments over one year. The study encourages international collaboration to advance understanding and improve care for these rare conditions.

Researchers are conducting an observational prospective study to build a large-scale multiomic database of adult patients undergoing advanced imaging studies. The study focuses on using recently introduced photon counting CT scanners and high-field 3T MRI scanners to explore latent imaging information, called opportunist features, which may provide new insights into disease risk and progression. This research aims to improve understanding of pathological mechanisms and enhance diagnostic and prognostic accuracy in fields such as oncology, neurology, pulmonary, and cardiovascular diseases. The study enrolls consecutive adults undergoing advanced imaging examinations at a single center using the Photon Counting CT scanner Neaotom Alpha, Siemens and 3T MRI MR 7700, Philips. Imaging raw data along with conventional images will be stored. Clinical, demographic, and laboratory information, including genetic test results when available, will be collected at enrollment. Blood samples for lab analysis will be taken during contrast media administration when applicable. Annual updates through clinical visits, telehealth, or phone interviews will be conducted to gather follow-up clinical, lab, and imaging data over a 10-year period. Participants will be asked to provide informed consent and undergo routine imaging and clinical assessments as part of their standard care. Data collection includes questionnaires, interviews, and automatic record updates when examinations occur at the study site. Researchers will monitor the development of imaging signatures linked to disease prevention, diagnosis, and treatment. The primary outcome is the creation of a comprehensive multiomics archive to support broad scientific research, with yearly follow-ups for up to 10 years.

Researchers are evaluating a new handheld optical coherence tomography OCT device designed to automatically align with the eye to capture detailed retinal images. This pilot study aims to assess this advanced imaging technology in healthy adult volunteers, adult patients, and pediatric patients with eye and retinal diseases, addressing current challenges in imaging uncooperative patients, especially children. The study is observational and led by Duke University, focusing on improving imaging speed, alignment, and data quality for retinal assessment. The study uses a Swept Source OCT system with enhanced hand-held probe technology that auto-aligns to the patients eye and detects image quality in real time, automatically saving optimal images. Participants include 20 healthy adults, 20 adult patients, and 10 pediatric patients from ophthalmology clinics. Imaging will be performed during clinical visits, with up to four single imaging sessions over two years to capture detailed retinal structure and blood flow. Participants will undergo retinal imaging using the handheld OCT device during their clinical visits. Researchers will analyze images for retinal microanatomy abnormalities and retinal thickness at specific eye regions, collecting data securely for further analysis. The study will monitor outcomes over multiple sessions for up to two years, with no known risks reported from prior handheld OCT use. The total participation duration depends on the number of imaging sessions completed within the study timeframe.

Researchers are evaluating how the timing of artificial intelligence AI support affects chest X-ray interpretation by healthcare professionals. This study explores whether showing AI information before or after a clinician first reviews a chest X-ray changes their visual search behavior, interpretation time, decision-making, confidence, and trust in AI. The study uses a behavioral diagnostic reader design involving eye-tracking technology to better understand these effects in a controlled NHS research setting. Participants will complete two chest X-ray interpretation sessions spaced at least four weeks apart, using the same set of de-identified images. In one session, AI output is shown before the clinician reviews the X-ray, while in the other session, the AI information is shown after the initial review. Each session involves a two-phase interpretation process where either the X-ray or AI output is first viewed, followed by the introduction of the other source before final interpretation submission. Eye-tracking equipment records visual attention and search patterns during the tasks. Participants will review 25 chest X-ray cases per session and complete questionnaires about their experience with AI support. Researchers will analyze interpretation time, diagnostic accuracy, clinical recommendations, confidence, trust, and visual search behavior. Data collected includes eye-tracking metrics, structured interpretation responses, and participant feedback. The study does not involve patients directly, change clinical care, or use AI for actual diagnosis. It aims to provide evidence to guide safer and more effective use of AI in chest X-ray interpretation.