ELA España

En 2010, la fundación ha destinado 2.175.858 € a la investigación sobre las Leucodistrofias y las enfermedades de la mielina.
Un total de 30 proyectos de investigación han sido financiados en 2010, según sel siguiente reparto:

• 848.089 € para los nuevos proyectos de investigación
• 937.769 € para la renovación de proyectos
• 390.000 € para los proyectos estratégicos

Proyectos financiados

• Toxicological and biodistribution complementary studies in perspective of a  request for authorisation of a gene therapy clinial trial in metachromatic leukodystrophy
• Development of trafficking based therapeutic strategies to restore MLC1 membrane protein expression in MLC affected patients
• Development and exploitation of test systems to evaluate therapies for peroxisomal leukodystrophies
• Genesis of OPCs from accessible sources of pluripotent and multipotent stem cells to promote CNS remyelination
• micro-RNA based hematopietic stem cell gene therapy for the treatment of globoid cell leukodystrophy
• Collaborative project to identify the mutated gene responsible for a novel Tremor-Ataxia with Central Hypomyelination (TACH) leukodystrophy which maps to chromosome 10q22.3-10q23.31
• A new mouse model for studying glial regenerative potential, myelin repair and oligodendrocyte/Schwann cell interaction
• Function of the repellent Slit proteins and their receptors in proliferation, migration and differentiation of SVZ-derived neural precursors in the normal and demyelinated CNS
• Exome sequencing for the identification of three novel leukodystrophies
• Promoting Myelination of the CNS in a Model of Pelizaeus-Merzbacher Disease
• An examination of function of demyelinated, dystrophic axons
• Dissecting eIF2B-related glial cells pathopysiology using a Knock-In mouse model
• Animal models of megalencephalic leukoencephalopathy
• Pharmacological therapies and development of cerebral mouse models for X-adrenoleukodystrophy
• Establishing an in vitro model of vanishing white matter disease
• Towards an in vitro model of X-ALD, using patient-derived iPS cells
• Influence of tissue plasminogen activator (t-PA)-induced cascades in the demyelinating white matter lesions of the preterm newborn
• Identification of plasmatic biomarkers of oxidation, inflammation and oligodendrocytic degenerescence associated with the cerebral demyelinating form of X-linked adrenoleukodystrophy (X-ALD)
• Enzyme replacement therapy of metachromatic leukodystrophy : CNS transfer vectors for efficient brain delivery of human arylsulfatase A
• Dissecting the role of hyccin in central and peripheral myelination by in vivo and in vitro studies
• Ketone body rescue of myelinating Canavan oligodendroglia
• Dix genes as regulators of oligodendrocyte production and therapic efficacy in transplant models of hypomyelinating leukodystrophy
• Development of demyelinating mouse models for X-adrenoleukodystrophy
• Role of oxidative stress and mitochondria in X-Adrenoleukodystrophy: therapeutic implications
• Pharmacological therapies for X-linked adrenoleukodystrophy
• Evaluation of the therapeutic potential of LXR antagonists for X-ALD
• Therapies to treat PMD
• Developing, characterizing and rescuing animal models of leukodystrophies: role of plasmalogen in mitigating oxidative stress
• Guidance molecules and central nervous system remyelination
• Understanding mechanisms of lower extremity strengthening in women heterozygous for X-ALD
• Resolution of the physiological role of human ABCD1 (ALDP) through studies in the yeast S. Cerevisiae and mutant Abcd1 (-/-) mice