MLC is a very rare, incurable leukodystrophy. Patients develop progressive deterioration of motor functions leading to wheel-chair dependence, cognitive decline and seizures, and their management requires intensive parental, scholastic and social support. Since the pathological process is partially reversible, the comprehension of the molecular defects causing the disease may allow the identification of specific molecules to be targeted to correct the dysregulated processes and slow down MLC progression, thus improving disease symptoms. We here proposed to study MLC dysfunctional mechanisms and test therapeutic compounds in astrocytes differentiated from patient skin cells and in blood samples. Results obtained from these studies will allow the identification of pharmacological compounds able to correct MLC defects in patient-derived cells, providing the foundation for therapeutic strategies potentially translatable to patients.