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Abstract

January - March 2023 | Vol. 16 | Issue 1 | 16
Lysosomal Storage Disorders: New Therapies in the Horizon
Roopadarshini Balan
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India
Address for Correspondence Email: obsieroopsie@gmail.com
 
Abstract
Chemically modified recombinant human sulfamidase (SOBI003) in MPS IIIA patients (Harmatz et al., 2022) This phase 1/2 clinical trial studied the effects of a chemically modified (glycan modification) variant of recombinant human sulfamidase (SOBI003), which was previously shown to cross the blood-brain barrier (BBB) and achieve good CSF levels in mice. The study evaluated the safety, efficacy, pharmacodynamics, and pharmacokinetics of this drug in six patients with MPS IIIA when used upto 104 weeks. Six children with developmental age more than or equal to 12 months were given 3 mg/kg or 10 mg/kg weekly intravenous injections. Serum and CSF concentrations of the drug increased with the dose, and 79% reduction in levels of heparan sulphate (HS) in the CSF was noted. Stabilisation of cognition was observed, and the drug was well tolerated; however,there was no significant benefit noted in the quality of life and sleep pattern.
 
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