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Tiny genetic clues may unlock eye disease mysteries

NCT ID NCT04658251

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
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early This study
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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked at people with cone disorders, a type of inherited eye disease that affects color vision and sharp sight. Researchers analyzed genetic changes of unknown significance to see if they cause disease. The goal was to improve genetic diagnosis, not to test a treatment. Only 7 people took part before the study ended early.

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

7 people

The number who actually took part.

Started

Mar 2021

Finished

Apr 2024

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

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

Who is studied

Patients carrying an intronic variant of unknown significance (or carrying an exonic variant with a predicted effect on splicing) in a gene implicated (or potentially implicated) in cone disorders, will be included in the study.

Ages

3 years and older

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.

Inclusion Criteria: * clinical diagnosis of cone disorder * identification of a variant of unknown significance * possibility of samplings * informed consent Exclusion Criteria: * no variant of unknown significance identified * no informed consent

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Locations

  • CHU lille

    Lille, 59037, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.