An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease


PR001A is designed to deliver a normal GBA1 gene copy into the body to increase the activity of GCase, which is low in Type 2 Gaucher Disease (GD2) patients. The new GBA1 gene will remain a child’s body cells for many years and possibly for the rest of their life. A participant will need one surgery during which the study drug will be given and will stay in the hospital for at least 48 hours following the surgery.

I'm interested

Male or Female
Up to 18 years old
This study is NOT accepting healthy volunteers
Inclusion Criteria:

• 0 to 24 months of age
• clinical diagnosis on Gaucher disease, Type 2 (GD2)
• Bi-allelic GBA1 mutation
• child has a reliable caregiver (i.e., parent/legal guardian) who is willing and able to participate in the study as a source of information on the patient's health status and cognitive and functional abilities
Exclusion Criteria:

• diagnosis of a significant CNS disease other than GD2
• able to walk independently
• any other significant medical diagnosis (study staff will review)
• significant laboratory test result abnormalities
• unable to tolerate diagnostic imaging (MRI, CT scan) or unable to tolerate contrast agent
• unable to have sedation or anesthesia

Genetic: LY3884961, Drug: Methylprednisolone, Drug: Prednisone, Drug: Sirolimus

Rare Diseases

Gaucher disease, Type 2 (GD2)

Brenda Diethelm-Okita -
Chester Whitley, MD, PhD
Phase 1/Phase 2
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