GM1 Gangliosidosis Gene Therapy Study



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The purpose of this study is to test and find a safe dose of this investigational gene therapy PBGM01 (also known as, the “study drug”) in children who have been diagnosed with the early infantile or late infantile form of GM1. The study will also try to determine how PBGM01 might affect the GM1 disease course over time. The study drug is investigational, which means it has not been approved for marketing by the FDA. This study is the first time PBGM01 will be given to humans, so we do not know for sure if participants will benefit from this study. 

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at ramosjf [at] or 267-426-1360. Identifier

Eligibility & Criteria

IRB #:
Official Title:
A Phase 1/2 Open-Label, Multicenter, Dose Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered into the Cisterna Magna of Pediatric Subjects Aged 4 to 24 Months with Type 1 (Early Onset Infantile) and Aged 6 to 36 Months with Type 2a (Late Onset Infantile) GM1 Gangliosidosis (Imagine-1 Study)
Study Phase:
Phase I
Phase II
Eligible Age Range:
4 Months - 35 Months
Study Categories:

Visit Criteria

If individuals agree to take part in this study, participation will last for up to five years and will involve up to 18 study visits in person. This includes staying in Philadelphia (or somewhere close to the study site) for up to 8 weeks at the beginning of the study, including up to 2 weeks of screening assessments.

Participants will also undergo safety blood draws and specimen collection at locations closer to their homes. At visits where only safety blood draws and specimen samples are collected, a home nursing service may be used to collect those samples (for example: saliva, urine, stool and blood) at a mutually agreed-upon location. Additionally, participants will be requested to complete at-home videos between their in-person study visits.

Distinguishing features between this study and standard care include the following components:

  • Receiving the investigational study drug (PBGM01) one time via an injection into the space just below the brain (intracisternal injection).
  • Taking oral steroids for approximately two months.
  • Undergoing a series of research blood and urine tests, physical and neurological exams, cognitive and behavioral assessments, lumbar punctures (LP), ultrasounds, hearing and vision tests, nerve conduction studies, spinal x-rays, and MRIs.
  • Having some of these study procedures performed under general anesthesia.