Rare Disease Trial, Recruiting
voxsanity.com.au · Eligibility summary from public government registries · 18 August 2026 · not medical advice
Who may and may not be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who may be able to join
- You are willing to take part in the study and able to give your consent to participate
- You are willing and able to complete all the required visits and assessments at the start of the study
- You are 4 years of age or older
- You have a genetic report from an approved laboratory showing a specific gene change (variant) linked to a rare disease — the type and number of gene variants required depends on how the condition is inherited (confirm with trial site for details on which gene changes qualify)
- Both of your eyes have been diagnosed with a retinal dystrophy (a condition affecting the light-sensitive layer at the back of the eye)
- Both of your eyes can produce good quality photographs for the study (for example, the eyes are clear enough and the pupil can be dilated adequately)
Who may not be able to join
Each point below is a reason the trial team may not be able to accept someone. It is not a list of requirements to meet.
- You have taken certain medications linked to causing damage to the retina (such as amiodarone, chloroquine, hydroxychloroquine, tamoxifen, or similar drugs) for more than 1 year in total at any point in your life
- You currently have bleeding inside the eye (vitreous hemorrhage) in either eye
- You have current complications from severe short-sightedness in either eye that would prevent good quality eye photographs being taken
- You have had eye surgery (such as cataract surgery or laser eye surgery) in either eye within the last 3 months
- You have ever been diagnosed with glaucoma (a condition that damages the optic nerve) in either eye
- You have ever had a blockage of blood vessels in the retina, or advanced diabetes-related eye disease, in either eye
- You have any other eye disease that, in the doctor's opinion, could affect the study results (confirm with trial site)
- You have ever received stem cell or gene therapy in your eyes, or certain other specific eye treatments (such as ocriplasmin, or certain slow-release eye implants)
- You have received a specific type of eye injection called an ophthalmic oligonucleotide within the last 9 months
- You have received certain other treatments within a timeframe based on how long that treatment stays active in the body (confirm with trial site)
- Minors (under the age of majority) who are pregnant may not participate until they reach adulthood
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: José-Alain Sahel, MD, Director, UPMC Eye Center University of Pittsburgh School of Medicine
Phone: 813-975-8690
Australian sites
61 3 8344 3441
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
1 site(s) in Australia. Confirm current status and contact details directly with the trial site.
Primary endpoints
Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV]); Functional Outcome: Characterize Change Using Early Treatment of Diabetic Retinopathy Study (ETDRS) / HOTV Best Corrected Visual Acuity (BCVA) letter score; Functional Outcome: Characterize Change Using Low visual acuity test - for participants unable to see ETDRS letters; Functional Outcome: Characterize Change Using ETDRS/HOTV best corrected low luminance visual acuity letter score; Functional Outcome: Characterize Change in Mean retinal sensitivity;...
Can't join this trial?
Data last synced from ClinicalTrials.gov: 17 August 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.