SP 3 - PeriNAA
Clinical and metabolic manifestations of Canavan disease
Canavan leukodystrophy (CD, MIM # 271900) is caused by deficiency of the enzmye Aspartoacylase and leads to elevated NAA in different tissues of the body and severe dysfnction of brain white matter. Consequences are a spongy degeneration of brain white matter with loss of function of involved cells. Patients with CD suffer from a severely disturbed psychomotor development, mulitple disablities and macrocephaly and die early. Pathophysiology of CD especially concerning the involvement of peripheral tissue is not understood. The Leukodystrophy Clinic in Hamburg Eppendorf studies the natural history of CD since 2011, since a few years in cooperation with Harvard University and NYU, USA. Studies were focused on neurological problemes of the disesae. Own observations and recent publications indicate that Aspartpacylase actvity and /or NAA metabolism of peripheral tissue are involved in the pathophysiology of the disease. This research consortium will collect clinical information, laboratory data, results of analysed patients tissue and will develop a computational model of metabolism and cell processes. Based on existing and to be to be collected data a CD Score will be developd that shall allow evaluation of future treatment options.