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New registry aims to track rare Lipin-1 deficiency

NCT ID NCT05564520

Knowledge-focused Sponsor: Imagine Institute 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
The trial has finished. Results may not be published yet.
Stopped early This study
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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is a registry that collects information on people with Lipin-1 deficiency, a rare genetic condition. Researchers will follow up to 12 patients over time to track survival and heart function. The goal is to better understand the disease and compare current treatments, not to test a new drug.

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

12 people

The number who actually took part.

Started

Nov 2023

Finished

Mar 2026

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

Patient with lipin1 deficit with two mutations on the LIPIN1 gene and having undergone acute rhabdomyolysis, 50 to 150 patients

Ages

12 months 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: Patient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene) Exclusion Criteria: Opposition of the patient or his parents to participate to the study

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Conditions

The condition(s) this trial relates to.

Rhabdomyolysis

As listed by the trial registrant

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

Lipin-1 deficiency

Contacts and locations

Locations

  • Necker - Enfants Malades Hospital

    Paris, 75015, France