StudyFinder
An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease
Status: Recruiting
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.
Sex: Male or Female
Age Group: Up to 18 years old
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
Interventions:
Genetic: LY3884961, Drug: Methylprednisolone, Drug: Prednisone, Drug: Sirolimus
Conditions:
Rare Diseases
Keywords:
Gaucher disease, Type 2 (GD2)
Study Contact: Brenda Diethelm-Okita - dieth001@umn.edu
Principal Investigator: Chester Whitley, MD, PhD
Phase: PHASE1
IRB Number: STUDY00008823
See this study on ClinicalTrials.gov