Tiny genetic clues may unlock eye disease mysteries
NCT ID NCT04658251
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
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7 people
The number who actually took part.
- Started
-
Mar 2021
- Finished
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Apr 2024
- Lead sponsor
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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
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Anyone
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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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
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Other studies related to the condition(s) this trial covers.
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