Compassionate Use of Simvastatin for a Patient with Juvenile Metachromatic Leukodystrophy

Background/Purpose: Juvenile metachromatic leukodystrophy (MLD) is a severe genetic neurodegenerative disease caused by deficiency of arylsulfatase A. Between the 3rd and the 16th year of life, demyelination causes motoric and cognitive disabilities. This leads to helplessness and early death. In early stages of the disease, hematopoietic stem cell transplant may positively influence the course of the disease. In later stages, only symptomatic treatment is possible. In 2015, it was reported that MLD mice receiving Simvastatin had less inflammatory cytokines and showed a better motor performance and less demyelination.

Methods: A 14-year-old patient with progressed juvenile MLD took Simvastatin for 18 months as compassionate use. Before treatment, further after 6 and after 18 months, the patient was examined extensively.

Results: Simvastatin was well tolerated. Within the first 8 weeks an improvement of motor and language abilities manifested. This effect was lost and over the next 16 months the disease slowly progressed with deterioration of language, motor abilities and nerve conduction times.

Conclusion: We report of a compassionate use of Simvastatin for a patient with juvenile MLD. If the temporary stabilization of disease progression within the first weeks of treatment was caused by Simvastatin remains unclear. To proof a potential benefit of Simvastatin for MLD further studies for example with the fast progressive late infantile form and more research investigating the role of inflammation for MLD is necessary.