Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy

Metachromatic Leukodystrophy

MLD

Objectives/Purpose: To determine the safety and efficacy of a Vitamin K (Vit K) antagonist (warfarin) in treating Metachromatic Leukodystrophy (MLD).

Hypothesis: Vit K has an essential role in biosynthesis of sulfatides and other sphingolopids in the brain. Administering warfarin, a Vit K antagonist, may ameliorate the phenotype in MLD by decreasing t he amount of sphingolipid storage in the neuronal cells. Study Design Prospective: we will enroll eligible consenting subjects into the study. The study will not include a control group and the families and treating physicians are informed administration of the drug. 1. Duration of Treatment: 4 weeks 2. Pharmacological Intervention: The patients will receive warfarin 1.5 mg at the beginning of the study period. The dosage then will be adjusted to the INR values on weekly basis. 3. Clinical evaluation: The patients will undergo clinical assessment prior to starting the treatment and at the end of the treatment period. The clinical assessment will also include administration of Gross Motor Function Measure (GMFM), a clinical toll for evaluation of motor development in children. 4. Urine Sulfatide Quantification: Urine samples for quantification of the sulfatide level will be collected at the time of enrollment, after 2 weeks and at the end of treatment period. 5. Blood Monitoring: The patients will undergo blood test for PT/INR at baseline and afterwards, at weekly bases for 4 weeks. The INR will be kept in a safe range of 2-2.5. If the INR is greater than 4.0 the dosage of warfarin will be lowered and another blood draw will be performed in 3 days.

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