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limited number of participating centers, due to regulatory burden and disease rarity.
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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Evaluation of survival in patients with Lipin-1 deficiency | Patient survival as assessed by long-term follow-up | According to routine care |
| Measure | Description | Time Frame |
|---|---|---|
| Evaluation of cardiac function in patients with Lipin-1 deficiency | Cardiac function, assessed by cardiographic ultrasound | According to routine care |
| Comparison of the effectiveness of different current treatments in patients with Lipin-1 deficiency |
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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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Patient with lipin1 deficit with two mutations on the LIPIN1 gene and having undergone acute rhabdomyolysis, 50 to 150 patients
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| Name | Affiliation | Role |
|---|---|---|
| Pascale De Lonlay, Pr | Necker Hospital | Principal Investigator |
| Hortense De Calbiac, Ph.D. | Institut Imagine | Study Chair |
| Caroline Tuchmann-Durand, Pharm D | Institut Imagine | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Necker - Enfants Malades Hospital | Paris | 75015 | France |
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| ID | Term |
|---|---|
| D012206 | Rhabdomyolysis |
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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Comparison of the number of severe rhabdomyolysis and biological assessment (CPK measurement performed as part of care) in patients
| According to routine care |
| Evaluation of the quality of life of patients with Lipin-1 deficiency | Quality of life, assessed by standardized questionnaires | 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 | According to routine care |
| Evaluation the fatigability of patients with Lipin-1 deficiency | Exercise capacity, assessed by walking tests | According to routine care |