GTA-Glyceryltriacetate for Canavan Disease

Phase 1

Brief Summary: The purpose of this study is to determine whether oral supplementation of glyceryl triacetate improves the clinical prognosis of Canavan Disease.

Detailed Description: Canavan Disease is caused by a deficiency in the enzyme named Aspartoacylase (ASPA). This disease is a devastating, progressive disease with no available treatment. As a result of the ASPA deficiency, there are high levels of N-acetylaspartate (NAA) and low levels of L-aspartate and acetate.

We hypothesize that one of the functions of ASPA is to provide sufficient levels of acetate for CNS myelinization. For this reason, we offer to supplement acetate levels by the oral administration of glyceryl triacetate (GTA). Such treatment must be offered to patients before the age of 18 months, prior to the termination of CNS myelinization.

1. Two patients, aged less than 15 months, will receive daily doses of oral GTA

2. The daily dose will be increased incrementally until the maintenance dose is reached. This will be done under close monitoring of the patients, including periodic blood gas sampling.

3. GTA has not been shown to cause any known toxicity, according to the Cosmetic Ingredient Review Expert Panel (Fiume, 2003).

Recruitment & Eligibility

Inclusion Criteria

Exclusion Criteria

Primary Outcome Measures

Name	Time	Method
All primary outcome will be evaluated 4 months following the initiation of treatment:
Neurological Status
Brain Imaging: MRI & MRS
NAA Levels in Urine
Ophthalmologic Examination

Secondary Outcome Measures

Name	Time	Method

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