Supported projects

M202002 – High sensitivity metabolomics for MSUD gene therapy

Scientific leader
Dr. Chris Ottolenghi

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder resulting from the dysfunction of an enzyme involved in the degradation of an amino acid called leucine. Available therapies are cumbersome and only partly effective. An ongoing project shows that gene therapy at high doses fully cures a mouse model of this disorder based on standard phenotype. However, translation to the clinic requires more detailed biochemical analyses to adequately evaluate any residual disease.


Genetics of mitochondrial diseases lab

Institut Imagine

24 Boulevard du Montparnasse

75015 Paris