Abstract
Gaucher’s disease is an inherited metabolic disorder that results in a deficiency of the enzyme glucocerebrosidase, which acts on the glycolipid glucocerebroside. This causes a rapid accumulation of glucocerebroside in affected persons, which manifests in organ malfunctions and disfiguration, swelling, and severe neurologic complications, among other symptoms. Enzyme replacement therapy can manage the symptoms but when the brain is affected, the treatment is not effective since the enzymes cannot cross the blood brain barrier (BBB). Imaging of enzyme replacement therapy has shown that only insignificant amounts reach the brain.[1] In this work, we intend to evaluate brain uptake of enzyme replacement after BBB opening mediated by focused ultrasound (FUS) to validate this delivery technique for the treatment of neurologic complications caused by Gaucher’s disease. Our goal is to develop a system for Blood Brain Barrier delivery that can be followed up using positron emission tomography (PET) imaging. It will then be used to create and validate the delivery after intravenous injection of radiolabelled enzymes.
Highlights
Background/introduction Gaucher’s disease is an inherited metabolic disorder that results in a deficiency of the enzyme glucocerebrosidase, which acts on the glycolipid glucocerebroside
This causes a rapid accumulation of glucocerebroside in affected persons, which manifests in organ malfunctions and disfiguration, swelling, and severe neurologic complications, among other symptoms
Our goal is to develop a system for Blood Brain Barrier delivery that can be followed up using positron emission tomography (PET) imaging
Summary
Background/introduction Gaucher’s disease is an inherited metabolic disorder that results in a deficiency of the enzyme glucocerebrosidase, which acts on the glycolipid glucocerebroside. This causes a rapid accumulation of glucocerebroside in affected persons, which manifests in organ malfunctions and disfiguration, swelling, and severe neurologic complications, among other symptoms. Enzyme replacement therapy can manage the symptoms but when the brain is affected, the treatment is not effective since the enzymes cannot cross the blood brain barrier (BBB). We intend to evaluate brain uptake of enzyme replacement after BBB opening mediated by focused ultrasound (FUS) to validate this delivery technique for the treatment of neurologic complications caused by Gaucher’s disease. It will be used to create and validate the delivery after intravenous injection of radiolabelled enzymes
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