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Hunting for hidden genes behind albinism

NCT ID NCT04068961

Knowledge-focused Sponsor: University Hospital, Bordeaux 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
Running, but no longer taking on new participants.
Completed This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study investigates people with oculocutaneous albinism who have no known genetic cause for their condition. Researchers use advanced DNA analysis techniques to search for new or hidden mutations. The goal is to improve diagnosis and understanding of this inherited condition.

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 could improve genetic diagnosis for people with oculocutaneous albinism, helping families understand the cause and potentially guiding future research.
What could go wrong
This is an observational genetic study, not a treatment trial. It may not find new mutations, and any discoveries would need further research before benefiting patients.

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

64 people

The number who actually took part.

Started

Sep 2010

Finished

Oct 2010

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 having been examined during a genetic consultation, with Oculocutaneous Albinism

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: -Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes) Exclusion Criteria: None

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Conditions

The condition(s) this trial relates to.

oculocutaneous albinism

As listed by the trial registrant

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

Mutation Oculocutaneous albinism

More trials for these conditions

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