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Rare gene mutation may raise emphysema risk, small study finds

NCT ID NCT05550844

Knowledge-focused Sponsor: University Hospital, Lille 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 8 people with a FLNA gene mutation to see how many also had emphysema, a lung condition that damages air sacs. Participants had a chest scan, breathing tests, and a checkup with a lung doctor. The goal was to confirm if this rare genetic change is linked to unexplained emphysema.

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

8 people

The number who actually took part.

Started

Feb 2023

Finished

Oct 2023

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 FLNA mutation identified in Lille University Hospital in BAMARA registry

Ages

18 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 an FLNA mutation (or gene alteration) * patient who has given written consent to participate in the trial * socially insured patient * patient willing to comply with all study procedures and duration Exclusion Criteria: * Patient refused or unable to give informed consent * Administrative reasons: inability to receive information, inability to participate in the entire study, lack of coverage by the social security system, * Pregnant or breastfeeding women * Patient under guardianship * Persons deprived of liberty

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Conditions

The condition(s) this trial relates to.

pulmonary emphysema

As listed by the trial registrant

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

Emphysema

Contacts and locations

Locations

  • Lille University Hospital

    Lille, Hauts-de-France, 59037, France

More trials for these conditions

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