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.
Study Type
OBSERVATIONAL
Enrollment
12
Necker - Enfants Malades Hospital
Paris, France
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
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