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Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric aciduria type 1 in Gcdh -1- mice

Rare diseases

Senior Researcher : Cristina Fillat Fonts

Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.

Abstract

Glutaric aciduria type 1 (GA-1) is a rare metabolic inherited disorder in the catabolic pathways of lysine, hydroxylysine and tryptophan. lt is caused by the deficiency of glucaryi-CoA dehydrogenase (GCDH). The enzymatic defect results in the accumulation of glutaric acid, 3-hydroxyglutaric and glutarylcarnitine in body tissues and fluids. Clinically, GA-1 patients display macrocephaly, progressive dystonia and dyskinesia. Most affected individuals experience acute encephalopathic crises during the first 6 years of life. Dietary lysine restriction, carnitine supplementation and intensified emergency treatment during catabolism are effective for sorne individuals. Unfortunately, one-third of affected children do not respond to therapy and experience striatal degeneration with irreversible brain damage.

In the current project, we aim to explore the feasibility of gene therapy for GA-1 in the gcdh -1- mouse model using adeno-associated viral vectors serotype 9 (AAV9) encoding the GCDH gene. Specifically, we aim to study: 1) the efficacy of cerebro spinal fluid (CSF) delivery of AAV9 vectors expressing GCDH (AAV9-GCDH) in Gcdh- 1- young adults, 2) the efficacy of an early intervention and 3) to define the optimal route and time of administration for future clinical application.

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