An observational study in Lipin-1 Deficiency, sponsored by Imagine Institute. Terminated at 1 site in France. Open to participants aged 12 Months and older. Per ClinicalTrials.gov, last updated 2026-03-27.
Sponsored by Imagine Institute · Observational
Help build ClinicalTrials.gg — short surveys, remote interviews or testing, in your language. Take part →
LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency.
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.
40 studies on the registry are indexed under Rhabdomyolysis; 5 are open to participants now.
This study's enrollment of 12 is below the median of 150 across 23 observational studies indexed under Rhabdomyolysis.
Browse Rhabdomyolysis studies →Imagine Institute is the lead sponsor of 31 studies on the registry; 15 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patient with lipin1 deficit with two mutations on the LIPIN1 gene and having undergone acute rhabdomyolysis, 50 to 150 patients
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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
Evaluation of survival in patients with Lipin-1 deficiency
Patient survival as assessed by long-term follow-up
Time frame: According to routine care
Evaluation of cardiac function in patients with Lipin-1 deficiency
Cardiac function, assessed by cardiographic ultrasound
Time frame: 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
Time frame: According to routine care
Evaluation of the quality of life of patients with Lipin-1 deficiency
Quality of life, assessed by standardized questionnaires
Time frame: 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
Time frame: According to routine care
Evaluation the fatigability of patients with Lipin-1 deficiency
Exercise capacity, assessed by walking tests
Time frame: According to routine care
Ran from Nov 2023 to primary completion in Mar 2026, 28 months.
How these figures are worked out, and which studies are left out of them.
This study is terminated, as verified in Mar 2026. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Imagine Institute