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X-linked Adrenoleukodystrophy (X-ALD): pathogenesis, animal models and therapy

Objective

Our ultimate goal is to develop new therapies for X-linked adrenoleukodystrophy (X-ALD), the most frequent inherited monogenie demyelinating disease of the central nervous system (1:18,000). X-ALD is characterised by extensive phenotypic variability, which is not correlated to ALD genotype, and leads to death in boys due to cerebral demyelination and to motor disability in adults due to spinal cord degeneration. Allogenic bone marrow transplantation, proven to be beneficial in X-ALD, can be applied only to a limited number of X-ALD patients. Thus, there is no treatment for the majority of patients, in particular those with the severe cerebral form of X-ALD and adults with adrenomyeloneuropathy (AMN). Understanding of the pathogenesis is necessary for the development of novel therapeutic strategies. The still unresolved transporter function of the ALD protein will be studied in reconstituted liposomes. To get further insight into the pathogenesis of X-ALD, we aim to identify genes and proteins that are differentially regulated in the target tissues of patients with cerebral ALD and AMN using Affymetrix analysis of differential mRNA expression and a proteomics approach based on MALDI-TOF mass spectrometry. Additional genome-wide approaches such as mapping of quantitative trait loci will be applied to identify modifier genes that may contribute to the phenotypic variability of X-ALD. We will generate new mouse models that represent a wider phenotypic spectrum of the disease for a more efficient evaluation of therapeutic strategies...

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Coordinator

MEDIZINISCHE UNIVERSITÄT WIEN

Address

Spitalgasse 23
Vienna

Austria

Participants (5)

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INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE

France

INSTITUT DE RECERCA ONCOLÒGICA

Spain

MAX-PLANCK-GESELLSCHAFT ZUR FÖRDERUNG DER WISSENSCHAFTEN E.V.

Germany

ACADEMISCH ZIEKENHUIS BIJ DE UNIVERSITEIT VAN AMSTERDAM

Netherlands

CELLMED AG

Germany

Project information

Grant agreement ID: 502987

  • Start date

    1 April 2004

  • End date

    31 March 2007

Funded under:

FP6-LIFESCIHEALTH

  • Overall budget:

    € 2 362 962

  • EU contribution

    € 1 800 000

Coordinated by:

MEDIZINISCHE UNIVERSITÄT WIEN

Austria