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Hunter James Kelly Research Institute - Extramural Research
When the Foundation began funding research to ultimately find a cure for Krabbe and Leukodystrophies, studies and investigations were scattered across many universities and many research teams. To give such important research a focus, the Hunter James Kelly Research Institute was developed, in conjunction with the University at Buffalo School of Medicine. The majority of funding available for research from the Hunter's Hope Foundation supports basic science and clinical projects at the HJKRI.
We know, however, that research teams in various locations throughout the world continue their efforts to help those affected by Krabbe and Leukodystrophies. Therefore, through HJKRI, we continue to fund important and promising extramural research projects.
Several encouraging laboratory studies have been published by a number of groups that demonstrate the potential of gene therapy to treat Krabbe Disease. However, these studies were done in ways that would be difficult to translate directly to humans.
The laboratory at the UNC Gene Therapy Center has been investigating ways to globally deliver a gene to the nervous system in a way that can scale to humans. This approach will be implemented in a planned human clinical trial for Giant Axonal Neuropathy and will use a modified virus called AAV, which has been engineered to carry a therapeutic gene instead of virus genes, essentially serving as a molecular delivery truck termed a “vector.” This vector is administered by an intrathecal injection, similar to a spinal tap, which is a routine outpatient procedure with minimal risk.
The objective of this study is to bridge the gap between earlier encouraging laboratory studies and a possible human treatment, modeling this AAV intrathecal approach in younger and older mice with Krabbe Disease.
In-Utero Transplants in Krabbe Patients
Dr. Joanne Kurtzberg is conducting cord blood transplants in Krabbe patients before birth. The benefits of this research include a faster time to transplant as compared to those administered after newborn screening, and avoidance of chemotherapy.
The purpose of this Phase I Clinical Trial is to determine if it is safe to administer unrelated umbilical cord blood to pregnant mothers during their first trimester. This study includes Krabbe Disease as well as other Lysosomal Storage Disorders including MLD, Tay Sachs, Sandhoff, and PMD.
It is anticipated that these results will shed light on the importance of timely diagnosis and providing treatment before the onset of symptoms.
To learn more please visit: clinicaltrials.gov
Enzyme Replacement Therapy for Krabbe Disease
Enzyme replacement therapy (ERT) has been successful at controlling some symptoms of Lysosomal Storage Disorders (LSDs), such as Gaucher Disease. However, ERT has not yet been effective for the severe forms of these diseases that have Central Nervous System (CNS) involvement, or for LSDs that have the nervous system as the primary site of pathology, such as Krabbe Disease. The failure of ERT to improve LSDs that involve the CNS is largely due to the inability of the replacement enzyme to gain access to the brain and spinal cord.
This research investigates the capacity of ERT as treatment for Krabbe Disease in the mouse model. This novel and innovative approach delivers GALC to the central nervous system through a non-invasive procedure. The project has two main parts – the production of the new enzyme, and the administration of the new enzyme into the mice. The groundbreaking work in the mouse model is building the foundation for clinical trials and paving the way while working to discover new treatments for Krabbe and similar diseases.
Pharmacological Strategies for Preventing Damage that Occurs in Krabbe Disease
The risks of cord blood transplant and the long period of time before gene therapy becomes available, emphasize the need for discovery of approaches that can be implemented more safely and rapidly. No approach is better suited for this than discovering new uses for existing pharmacological therapies. By taking advantage of the fact that most, if not all, drugs have multiple mechanisms of action, this strategy enables the discovery of new uses of agents that already have been shown to be safe in humans and for which extensive information exists on dosage and safety. Moreover, only pharmacological approaches offer the possibility of affecting every cell in the body.
Screening for Krabbe & Similar Disorders in Multiple Sclerosis Patients
This project was originally conceived on the back of preliminary data from Krabbe newborn screening in the state of New York, which suggests that late onset Krabbe Disease may account for a higher proportion of the total number of cases than was originally appreciated.
The purpose of this study is an evaluation of newborns screening
positive for various inherited metabolic diseases. In conjunction with Melissa Wasserstein, MD, with Mount Sinai School of Medicine, this
is a pilot study looking at the utility of screening for adolescent and
adult onset variants of Leukodystrophies, lysosomal
storage diseases, and other neurometabolic disorders (Krabbe,
MLD, Alexander Disease, ADLD, Fabry, PLP1 Disease, GM2 Gangliosidosis)
in a select cohort of patients seen in adult neurology clinics. These patients were possibly misdiagnosed with other disorders such as Multiple Sclerosis, Parkinson's Disease or dementia.