Lipin-1 DeficiencyLIPIN1NCT05564520
International Multicenter Study on Lipin-1 Deficiency
An observational study of Lipin-1 Deficiency, run by Imagine Institute at 1 site in France.
Trial summary
LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency. Read more about this study
- Who is it for?
- Ages 12 months and older
- Conditions the study is for
- Lipin-1 Deficiency
- How many people
- 12 participants
- Where
- 1 siteFrance
- Study dates
- 24 Nov 2023to 24 Mar 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with lipin1 deficit with two mutations on the LIPIN1 gene and having undergone acute rhabdomyolysis, 50 to 150 patients
Who may be able to join
- Patient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene)
Who cannot join
- Opposition of the patient or his parents to participate to the study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Etude Multicentrique Internationale Sur le déficit en Lipin-1
LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency.
Read the detailed description
This study evaluates survival, cardiac function, quality of life, fatigability, treatment tolerance and comparison of the efficacy of different current treatments in patients with Lipin-1 deficiency.
- Conditions
- Lipin-1 Deficiency
- Keywords
- Inherited Metabolic Diseases, enzymatic deficiency, rhabdomyolysis
- Medical subject headings
- Rhabdomyolysis
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of survival in patients with Lipin-1 deficiency
Patient survival as assessed by long-term follow-up
Measured: According to routine care
Secondary outcomes (5)
Evaluation of cardiac function in patients with Lipin-1 deficiency
Cardiac function, assessed by cardiographic ultrasound
Measured: According to routine care
Comparison of the effectiveness of different current treatments in patients with Lipin-1 deficiency
Comparison of the number of severe rhabdomyolysis and biological assessment (CPK measurement performed as part of care) in patients
Measured: According to routine care
Evaluation of the quality of life of patients with Lipin-1 deficiency
Quality of life, assessed by standardized questionnaires
Measured: According to routine care
Evaluation of the tolerance of treatments in patients with Lipin-1 deficiency.
Treatment side effects, assessed by abdominal pain, skin allergy and other adverse effects
Measured: According to routine care
Evaluation the fatigability of patients with Lipin-1 deficiency
Exercise capacity, assessed by walking tests
Measured: According to routine care
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Oct 2022
- Study start24 Nov 2023
- Primary completion24 Mar 2026
- Study completion24 Mar 2026
Why it stopped: limited number of participating centers, due to regulatory burden and disease rarity.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lipin-1 DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Pascale De Lonlay, Pr, Principal investigator, Necker HospitalHortense De Calbiac, Ph.D., Study chair, Institut ImagineCaroline Tuchmann-Durand, Pharm D, Study chair, Institut Imagine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05564520
- Sponsor's protocol ID
- HJ-23-LIPIN1
- Acronym
- LIPIN1
- Status last verified
- Mar 2026
- First submitted
- 27 Sep 2022
- Last updated
- 27 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Etude Multicentrique Internationale Sur le déficit en Lipin-1
- ClinicalTrials.gov ID
- NCT05564520
- Acronym / sponsor ID
- LIPIN1 / HJ-23-LIPIN1
- Conditions
- Lipin-1 Deficiency
- Keywords
- Inherited Metabolic Diseases, enzymatic deficiency, rhabdomyolysis
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: limited number of participating centers, due to regulatory burden and disease rarity.
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Study start
- 24 Nov 2023 (actual)
- Primary completion
- 24 Mar 2026 (actual)
- Study completion
- 24 Mar 2026 (actual)
- First posted
- 3 Oct 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency.
Detailed description
This study evaluates survival, cardiac function, quality of life, fatigability, treatment tolerance and comparison of the efficacy of different current treatments in patients with Lipin-1 deficiency.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 12 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with lipin1 deficit with two mutations on the LIPIN1 gene and having undergone acute rhabdomyolysis, 50 to 150 patients
Key inclusion criteria (1 listed)
- Patient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene)
Key exclusion criteria (1 listed)
- Opposition of the patient or his parents to participate to the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Evaluation of survival in patients with Lipin-1 deficiency
Time frame: According to routine care
Patient survival as assessed by long-term follow-up
5 secondary outcomes
Evaluation of cardiac function in patients with Lipin-1 deficiency
Time frame: According to routine care
Comparison of the effectiveness of different current treatments in patients with Lipin-1 deficiency
Time frame: According to routine care
Evaluation of the quality of life of patients with Lipin-1 deficiency
Time frame: According to routine care
Evaluation of the tolerance of treatments in patients with Lipin-1 deficiency.
Time frame: According to routine care
Evaluation the fatigability of patients with Lipin-1 deficiency
Time frame: According to routine care
Results and safety
The study was stopped early (reason given: limited number of participating centers, due to regulatory burden and disease rarity.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Pascale De Lonlay, Pr principal investigator
Necker Hospital
Hortense De Calbiac, Ph.D. study chair
Institut Imagine
Caroline Tuchmann-Durand, Pharm D study chair
Institut Imagine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lipin-1 Deficiency, run by Imagine Institute at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 27 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: limited number of participating centers, due to regulatory burden and disease rarity.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of survival in patients with Lipin-1 deficiency (time frame: According to routine care). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2026.