NCT04771416

Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease

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)

• Status: Suspended
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 24 (estimated)
• Sponsor: Gemma Biotherapeutics · Industry
• Sex: All
• Age: 1 Month – 9 Months
• Healthy volunteers: Not accepted

Summary

PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues. This study will evaluate the safety, tolerability and efficacy of this treatment by first evaluating two different doses in two different age groups, then confirming the optimal dose to be used for confirmation of safety and efficacy.

Detailed description

PBKR03 is an adeno-associated viral vector serotype Hu68 carrying the gene encoding for human galactosylceramidase, GALC, formulated as a solution for injection into the cisterna magna. This is a global interventional, multicenter, single-arm, dose escalation, study of PBKR03 delivered as a one-time dose administered into the cisterna magna of subjects with early infantile Krabbe Disease. The dose-ranging portion of the study will enroll independent dose escalation cohorts in two age groups of subjects with early infantile Krabbe disease: * Cohort 1: 3 subjects aged ≥4 to \<9 months will receive the low dose (Dose I) * Cohort 2: 3 subjects aged ≥4 to \<9 months will receive the high dose (Dose II) * Cohort 3: 3 subjects aged ≥1 to \<4 months will receive the low dose (Dose I) * Cohort 4: 3 subjects aged ≥1 to \<4 months will receive the high dose (Dose II) Part 1 of the study will enroll a total of four cohorts, enrolled sequentially with separate age-based dose-escalation cohorts. Enrollment will initiate in Cohort 1. Following completion of Cohort 1, simultaneous enrollment in Cohort 2 and Cohort 3 will occur. Cohort 4 will follow completion of cohort 3. The confirmatory cohort, Part 2, will enroll subjects with early infantile Krabbe Disease, aged \>1 to \<9 months. These subjects will receive a dose chosen based on the data obtained in part 1 of the study This will be a 2-year study with a 3-year safety extension.

Conditions

• Leukodystrophy, Globoid Cell

Interventions

Type	Name	Description
BIOLOGICAL	PBKR03	Single dose of PBKR03, via intra cisterna magna

Timeline

• Start date: 2022-02-24
• Primary completion: 2027-01-01
• Completion: 2030-01-01
• First posted: 2021-02-25
• Last updated: 2025-11-13

Locations

9 sites across 6 countries: United States, Brazil, Canada, Israel, Netherlands, United Kingdom

Regulatory

• FDA-regulated drug study