Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease

Study Summary

This study will use an experimental method of delivering the enzyme glucocerebrosidase directly into the brain of a patient with Gaucher disease to treat disease symptoms. Patients with Gaucher disease have insufficient levels of glucocerebrosidase. As a result, substances normally broken down by this enzyme accumulate in the body, causing damage to the brain and other organs. Symptoms of Gaucher disease outside the brain can be treated by infusing the missing enzyme intravenously (IV, through a vein). However, IV infusions do not help the neurologic symptoms of the disease, because the enzyme cannot get into the brain. This study will use a new technique called convection-enhanced delivery to try to introduce glucocerebrosidase directly into the brain. This single-patient study includes an 8-month-old male with Type 2 Gaucher disease with progressive neurological decline. In preparation for the enzyme infusion, the patient will have a complete physical examination, including a detailed neurological examination, and blood and urine tests. On the day of surgery, the child will be placed under general anesthesia for magnetic resonance imaging (MRI) of the brain. MRI uses a magnetic field and radio waves to produce images of body tissues and organs. For this procedure, the child lies on a table that is moved into the scanner (a narrow cylinder), wearing earplugs to protect his hearing from the loud knocking and thumping sounds that occur during the scanning process. He will then be brought to the operating room for the infusion procedure, as follows: An incision will be made in the scalp and a small hole drilled through the skull. Then, a small tube (cannula) will be positioned through the hole into the target area in the brain. Once the tip of the cannula is in place, it will be connected with tubing to a syringe filled with glucocerebrosidase in saline (salt water). The child will then have a second MRI scan to make sure the cannula is placed correctly and to moni