ABOUT THE GRANT

Globoid Cell Leukodystrophy (GLD, otherwise known as Krabbe Disease) is a rare, inherited lysosomal disorder characterized by
demyelination in both the central and peripheral nervous system. The disorder is progressive and lethal. Following extensive discussion
and review, it was decided that newborn screening for Krabbe should be added to the Recommended Newborn Screening Panel, or the RUSP.
The result of this will be expansion of the use of newborn screening throughout the United States. It will prove important to develop a
means of obtaining information regarding these patients, including their diagnosis, the progression of the disease, interventions and outcomes.
As there is substantial patient to patient variation in disease severity, an important parameter will include characterizing the mutations within
the galactocerebrosidase (GALC) gene, which are responsible for the disorder. The focus of this proposal is to establish a family-based registry
to facilitate collecting data related to patients with Krabbe throughout the United States. This will include diagnostic information, including the
mutational analysis, as well as clinical based data. The ability to anticipate disease severity and prognosis related to the genetics of patients will
be an important goal, and we will make this data readily available to providers and families by establishing a website with the information accumulated
through this registry. We are confident this will be a useful tool in better understanding the disease process, and how to most appropriately
treat patients and anticipate disease related complications.

An Interview with Paul Orchard, MD

Dr. Paul Orchard is the Medical Director of the Inherited Metabolic and Storage Disease Program and a Professor in the Department of Pediatrics, Division of Blood and Marrow
Transplant & Cellular Therapy. Dr. Orchard’s focus is in the use of hematopoietic stem cell transplantation and other cell therapies for inherited metabolic disorders, with a special interest in the inherited leukodystrophies, the mucopolysaccharidoses and osteopetrosis. His clinical
research is in evolving new and combination therapies to decrease toxicity and improve outcomes, with a particular interest in the use of gene therapy approaches.