Rare Disease Trial, Recruiting NCT06491615 Sponsor: National Eye Institute (NEI) Condition: Rare Disease
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Rare Disease Trial, Recruiting

NCT06491615
Recruiting Not Applicable

Who may 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 might be able to join this trial:

  • You have been diagnosed with aniridia (a condition where the colored part of the eye is missing or underdeveloped)
  • You have been diagnosed with Best disease (an inherited condition that affects central vision)
  • You have been diagnosed with blue-cone monochromacy (a rare color vision disorder affecting how the eyes detect light)
  • You have been diagnosed with a corneal dystrophy (an inherited condition affecting the clear front surface of the eye)
  • You have been diagnosed with a condition that causes reduced pigmentation and affects vision, such as albinism, Hermansky-Pudlak syndrome, or Chediak-Higashi syndrome
  • You are a close blood relative of someone who has one of these conditions and is already taking part in this study
  • You previously took part in the eyeGENE Stage 1 study and may benefit from additional genetic testing

Who may not be able to join:

  • People who have difficulty making their own decisions and do not have a legally authorized representative (such as a legal guardian) to act on their behalf
  • People who are unable to provide a saliva sample AND are also unable to safely provide a small blood sample (at least one teaspoon) for DNA testing
  • People with a history of epilepsy cannot take part in the optional eye-imaging part of the study
  • Children under the age of 18 cannot take part in the optional eye-imaging part of the study

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.

This is a simplified plain English summary of the eligibility criteria. Full criteria are set by the trial investigators and may include additional requirements not shown here. Never self-exclude from a trial based on this summary. Contact the trial site directly to confirm your eligibility.
Last synced 28 July 2026
This study is not part of the standard drug-approval phase pathway (for example an observational, device, behavioural, or registry study), so a phase success rate does not apply.

Contact this trial

Principal Investigator: Brian P Brooks, M.D., National Eye Institute (NEI)

Phone: (301) 435-3032

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

Status
Recruiting
Phase
Not Applicable
Sponsor
National Eye Institute (NEI)
Registry
ClinicalTrials.gov
Start date
12 July 2024
Est. completion
27 June 2054

Where this trial is recruiting

🇺🇸 United States

Primary endpoints

To expand the current eyeGENE data repository with targeted participant accrual.

Can't join this trial?

Expanded access pathways

If this trial is not available to you, other access pathways may exist. In Australia, the TGA Special Access Scheme allows access to unapproved therapeutic goods for individual patients.

TGA Special Access Scheme information

Find other recruiting trials on ClinicalTrials.gov

Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.

Trial recruitment status can change without notice between our nightly data updates. Always contact the trial site directly to confirm current recruitment status before making any decisions or travel arrangements.

View original record on ClinicalTrials.gov