MELAS Syndrome - Prognosis

Prognosis

There is no known treatment for the underlying disease, which is progressive and fatal. Patients are managed according to what areas of the body are affected at a particular time. Enzymes, amino acids, antioxidants and vitamins have been used, but there have been no consistent successes reported.

Although there have been no controlled trials on long-term benefits of dietary manipulations, the following supplements have shown promise and given hope to MELAS patients.

• CoQ10 has been helpful for some MELAS patients. Nicotinamide has been used because complex l accepts electrons from NADH and ultimately transfers electrons to CoQ10.

• Riboflavin has been reported to improve the function of a patient with complex l deficiency and the 3250T-C mutation.

• The administration of L-arginine during the acute and interictal periods may represent a potential new therapy for this syndrome to reduce brain damage due to impairment of vasodilation in intracerebral arteries due to nitric oxide depletion.

• There is evidence from animal studies that resveratrol and other SIRT1 activators may be used to treat MELAS by increasing mitochondrial biogenesis and function. Sirtris Pharmaceuticals, a GlaxoSmithKline company based in Cambridge, MA, is developing a proprietary formulation of resveratrol (called SRT-501) for the treatment of MELAS under Orphan Drug Designation from the U.S. Food and Drug Administration. Results from this phase 1b trial are expected in the first half of 2009.

• There is also a case report where succinate was successfully used to treat uncontrolled convulsions in MELAS patients, although this treatment modality is yet to be thoroughly investigated or widely recommended.