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Scientists track rare eye disease to prepare for future treatments

NCT ID NCT01736293

Knowledge-focused Sponsor: National Eye Institute (NEI) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Sep 02, 2026 · Updated 17 times

Summary

This study follows 68 people aged 12 and older who have ABCA4 gene mutations, which can cause vision loss from diseases like Stargardt disease. Over 10 years, researchers will collect blood and skin samples and perform detailed eye exams to understand how the disease progresses. No treatment is given; the goal is to gather information for future clinical trials.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could help design future clinical trials for treatments targeting ABCA4-related eye diseases.
What could go wrong
This is an observational study with no treatment given, so it will not directly improve vision. It only tracks disease progression over time.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

68 people

The number who actually took part.

Started

Oct 2012

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Participants will be recruited from other NEI protocols, such as the Ocular Natural History Protocol (16-EI-0134), the Genetics of Inherited Eye Disease Protocol (15-EI-0128), the NEI Screening Protocol (08-EI-0102), and/or the National Ophthalmic Disease Genotyping and Phenotyping Network, Phase II Protocol (eyeGENE II, 10-EI-N164), or through referral from an outside clinician after a review of pertinent medical records and genetic test results.

Ages

12 to 100 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* NCLUSION CRITERIA: 1. Participant must be 12 years of age or older. 2. Participant (or legal guardian) must understand and sign the protocol s informed consent document. 3. Participant must be able to cooperate with detailed psychophysics and electrophysiology testing. 4. Participant must be able to provide a blood sample. 5. Participant has: * A maculopathy or retinal degeneration plus two (or more) clear mutations in the ABCA4 gene (ascertained with CLIA-certified testing) that are known to be associated with retinal disease, OR -One clear mutation in ABCA4 associated with a classic presentation of fundus flavimaculatus/Stargardt macular dystrophy (e.g., flecks, macular atrophy) and no pathogenic mutation(s) in other genes known to cause macular dystrophy. OR -One clear mutation in ABCA4, a cone-rod degeneration and no clearly pathogenic mutation(s) in other genes known to cause cone-rod degeneration. EXCLUSION CRITERIA: Participant has evidence of a systemic condition or ocular disease not related to ABCA4 mutations that would complicate the analysis of psychophysical, electrophysiological, or imaging data. For example, a participant with advanced diabetes mellitus and significant diabetic retinopathy may display changes in retinal function that could be related to either his/her diabetic retinopathy or ABCA4 mutations.

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Conditions

The condition(s) this trial relates to.

ABCA4-related retinopathy cone-rod dystrophy retinal degeneration severe early-childhood-onset retinal dystrophy Stargardt disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ABCA4-related retinopathies Retinal degeneration

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

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