PBKR03 for Krabbe Disease



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Patients with Krabbe disease do not have enough of a certain protein called galactosylceramidase due to a defective gene. The lack of this protein causes damage to the patient's nerve cells. In this study, we will give a normal, properly working copy of that gene to your child. The procedure for replacing a defective gene by a normal one in a patient is called gene therapy. If your child joins this study, the normal galactosylceramidase gene will be delivered once into his or her cells by using a virus that has been changed so that it no longer causes disease. The name of the treatment used in this study is PBKR03. PBKR03 will be injected with a needle into a space at the top of your child's spine (called the cisterna magna). The purpose of this clinical research study is to learn more about PBKR03. It will test if treatment with PBKR03 is safe in children diagnosed with early infantile Krabbe disease.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at waldman [at] chop.edu or 215-590-1719.

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 PBKR03 Administered to Pediatric Subjects with Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy) (GALax-C)
Study Phase:
Phase I
Phase II
Eligible Age Range:
1 - 9 Months
Study Categories:

Visit Criteria

As a participant in the research your child will:

  • Receive an injection into a space at the top of their spine (called cisterna magna)
  • Receive medicines before the injection (called general anesthesia) so that he or she will not be aware of the procedure.
  • Visit the study site about 16 times during about 5 years of the study duration
  • Undergo neurological exams
  • Undergo hearing and vision testing
  • Have research blood tests, urine tests, and cerebrospinal fluid tests