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Eye tests reveal clues about neurofibromatosis

NCT ID NCT04153344

Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 26, 2026

Summary

This completed study looked at how the pigment layer of the eye works in 30 people with neurofibromatosis type 1. Researchers used special eye tests to measure electrical signals from the pigment layer and compared them to images of the back of the eye. The goal was to confirm earlier findings of unusually high pigment activity and see if it relates to certain spots seen on eye scans.

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

30 people

The number who actually took part.

Started

May 2020

Finished

Jul 2020

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 consulting the ophthalmology department of Necker-Enfants Malades Hospital: * 10 patients with neurofibromatosis type 1 without infrared hyperreflective areas * 10 patients with neurofibromatosis type 1 and infrared hyperreflective areas * 10 control patients with no retinal disease

Ages

7 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: * Patients with neurofibromatosis type 1, aged 7 years or older: * Presence of hyper-reflective choroidal lesions in infra-red imaging in the group with choroidal lesions. * Absence of hyper-reflective choroidal lesions in infra-red imaging in the group without choroidal lesions. * Control patients free from retinal or choroidal pathology, matched for age to patients in the group with neurofibromatosis type 1. * Patients consulting the ophthalmology department of Necker-Enfants Malades Hospital. * Non-opposition of the holders of the parental authority and the minor patient; non-opposition of the major patient. Exclusion Criteria: * Impossibility to perform an electro-oculogram, especially because of an oculomotor disorder, or an electroretinogram, for example because of hyperactivity. * Significant impairment of visual function. * Retinal pathology proved.

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Conditions

The condition(s) this trial relates to.

neurofibromatosis type 1

As listed by the trial registrant

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

Neurofibromatosis type 1

Contacts and locations

Locations

  • Hôpital Necker-Enfants Malades

    Paris, 75015, France

More trials for these conditions

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