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Abstract

July-September 2017 | Vol. 10 | Issue 3 | Page No 19-20
Towards a New Era: New Therapeutic Advances for Genetic Disorders
Surya Prabha B and Prajnya Ranganath
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad
Address for Correspondence Email: gierra@gmail.com
 
Abstract
A safe and effective gene therapy may soon be available for Metachromatic leukodystrophy, a debilitating neurodegenerative disorder caused by Arylsulfatase A (ARSA) enzyme deficiency. Nine children with presymptomatic late-infantile or early-juvenile disease or early-symptomatic early-juvenile disease were enrolled in this open-label, non-randomised phase 1/2 clinical trial conducted by the Pediatric Clinical Research Unit in Milan. The study subjects received autologous hematopoietic stem cells transduced with a lentiviral vector encoding ARSA cDNA, after busulfan conditioning. All patients survived over a follow up period of 36 months. Eight patients, seven of whom received treatment when presymptomatic, had prevention of disease onset or halted disease progression. ARSA activity was reconstituted in the circulating haemopoietic cells and cerebrospinal fluid. There were no serious adverse events related to the medicinal product itself.
 
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