Centre National De La Recherche Scientifique

Institut National De La Sante Et De La Recherche Medicale

Assistance Publique - Hopitaux De Paris (aphp)

UniversitÉ De Paris

Fondation Imagine

UniversitÉ Paris Descartes Assistance Publique-hÔpitaux De Paris (Aphp)

Foundation Imaging

Assistance Publique-hopitaux De Paris

UniversitÉ Paris Descartes

Inserm (institut National De La Sante Et De La Recherche Medicale)

Inserm

Pascale De Lonlay-Debeney

François-Xavier Mauvais

Yamina Hamel

Peter Van Endert

Corinne Lebreton

Marine Madrange

The inventors initially participated to the identification of LPIN1 mutations as a cause for massive rhabdomyolysis episodes in children, triggered by febrile illness. The inventors have suggested that TLR9 antagonists would be suitable for the treatment of rhabdomyolysis (WO2017085115). The inventors thus treated 2 patients with lipin-1 disease by a TRL9 antagonist (hydroxychloroquine). They showed that the accumulation of mtDNA in plasma of the two patients before treatment decreases under treatment. When the treatment was stopped, the accumulation of mtDNA reappeared, then normalized when treatment was resumed. Accordingly, the present invention relates to a method for determining whether a patient suffering from rhabdomyolysis achieves a response with a TLR9 antagonist comprising determining the amount of mitochondrial DNA (mtDNA) in a blood sample obtained from the patient (e.g. by PCR).

Methods for determining whether a patient suffering from rhabdomyolysis achieves a response with a TLR9 antagonist

The present invention relates to methods and pharmaceutical compositions for treating rhabdomyolysis.

Methods and pharmaceutical compostions for treating rhabdomyolysis

Growing community of inventors

Paris, France

Pascale De Lonlay-Debeney