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Rare cholesterol disorder linked to hidden eye risk

NCT ID NCT05208879

Knowledge-focused Sponsor: Hospices Civils de Lyon 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vision problems despite vitamin therapy. The goal was to better understand eye health risks in this group.

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

10 people

The number who actually took part.

Started

Jun 2022

Finished

Nov 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

This study relates to adults or children over 6 years of age (cooperation necessary to perform the fundus) with primary intestinal hypocholesterolemia. The control population comprising major control patients under the age of 50 (limit the risk of age-related macular degeneration - AMD) or under age over 6 (cooperation necessary to perform OF) routinely monitored in the service of ophthalmology requiring a fundus examination as part of their usual follow-up.

Ages

6 to 50 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.

Inclusion Criteria: * Genetically proven family hypocholesterolemia patients, * Patients systematically monitored in the Gastroenterology and Paediatric Nutrition department of the Women's Hospital Mother Child of Lyon or in the adult endocrinology department of the GHE (Louis Pradel Hospital), * Girl/woman or boy/man over 6 years and over 12 kg at the time of inclusion (age required for cooperation on macular pigment measurement), * No objection from the patient or their parents/legal tutors in the case of a minor patient, * Patient covered by social security. Exclusion Criteria: * Allergy to local anesthetics (especially xylocaine) * Mydriatic allergy * Person participating in another research with an exclusion period still in progress at pre-inclusion * Person subject to a safeguard measure.

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Conditions

The condition(s) this trial relates to.

abetalipoproteinemia chylomicron retention disease hypobetalipoproteinemia retinitis pigmentosa

As listed by the trial registrant

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

Abetalipoproteinemia Chylomicron retention disease Primary intestinal hypocholesterolemia

Contacts and locations

Locations

  • Fédération d'endocrinologie, maladies métaboliques, diabète et nutrition Hôpital cardiovasculaire et pneumologique Louis Pradel

    Bron, Bron, 69677, France

  • UF nutrition pédiatrique, Service hépatologie, gastroentérologie et nutrition pédiatrique Hôpital Femme Mère Enfant de Lyon (GHE-HFME)

    Bron, Bron, 69677, France

  • UF nutrition pédiatrique, Service hépatologie, gastroentérologie et nutrition pédiatrique Hôpital Femme Mère Enfant de Lyon (GHE-HFME)

    Bron, 69500, France