Congratulations to Eric Mallack, M.D. and Weill Cornell Medicine collaborators on the approval of their upcoming international gene therapy trial entitled, “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)." Dr. Eric Mallack will serve as Primary Investigator of the study.
Infantile Krabbe disease, or globoid cell leukodystrophy, is a genetic disorder of the nervous system that usually results in death before the age of two. It is caused by mutations in the GALC gene which encodes an enzyme responsible for the breakdown of multiple lipids in the brain. In Krabbe disease, there is a toxic accumulation of these lipids in cells throughout the nervous system. This results in progressive neurodegeneration: brain atrophy, spasticity, loss of hearing and vision, seizures, weight loss, aspiration, loss of development milestones and early mortality.
In this trial, Dr. Mallack, along with Dr. Zachary Grinspan and Dr. Barry Kosofsky in the Division of Child Neurology, Dr. Jessica Spat-Lemus, Dr. Heidi Allison Bender, and Dr. Padmaja Kandula in the Department of Neurosurgery, Dr. Michael Rubin in the Department of Neurology, and Dr. Elizabeth Weidman in the Division of Neuroradiology will assess the safety and efficacy of a new gene therapy approach aimed at delivering a healthy copy of GALC directly to the central and peripheral nervous system in patients with infantile-onset (1 - 9 months old) Krabbe Disease.
The team hopes this novel therapeutic approach will alter the natural history of disease, thereby providing meaningful therapeutic benefit to patients affected by this devastating disorder.