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Hunter James Kelly Research Institute - Clinical Research
Ultimately, the Clinical Center established at the Women and Children's Hospital of Buffalo will provide clinical care for children with Krabbe Disease, other Leukodystrophies and those with positive newborn screens for Krabbe Disease. In the future, as new therapies become available, it is anticipated that there will be an active translational research component to the Clinical Center.Objectives
The HJKRI Clinical Research Center has four major goals:
Thomas J. Langan, MD joined the HJKRI as the Clinical Director in 2012.
Dr. Langan is a neurologist, specializing in Pediatrics, practicing at Women and Children’s Hospital in Buffalo, NY. Additionally, he serves as Associate Professor of Neurology, Pediatrics, and Physiology & Biophysics at the University at Buffalo.
HJKRI Clinical Research Founder - Dr. Patricia Duffner, MD
After diagnosing four-month-old Hunter Kelly in 1997, Dr. Patricia K. Duffner established the Clinical Center of the HJKRI in 2006 and served as Clinical Director of the Institute until January 2012. Dr. Duffner established both the New York State Krabbe Consortium and the World Wide Registry for Krabbe Disease. She is currently a consultant to the Institute.
From the inception of Hunter’s Hope in 1997, the Foundation has gathered medical information from families affected by Krabbe Disease. In 2008, this registry officially became the Krabbe World Wide Registry and is now the center of all clinical research at the HJKRI. Currently, the WWR contains the medical records of more than 150 patients, making this registry the largest of its kind. The WWR provides invaluable information into diagnosis, outcomes, symptom management and treatment of Krabbe Disease.
Parent questionnaires and medical records are accessed and reviewed with a focus on clinical signs and symptoms, disease course, family history and results of biochemical, genetic and neurodiagnostic studies. In order to increase the number of patients with a known genotype, mutation analysis is performed on saliva and newborn blood spots. Results are then compared with clinical course to provide genotype/phenotype correlations. In addition, MRI discs from affected patients are reviewed in an effort to correlate neuroradiologic findings with phenotype and disease course.
This important registry is solely dependent upon family participation. If you are a family affected by Krabbe Disease and are not yet enrolled in the WWR, we urge you to contact the Hunter’s Hope Family Program Representative, Kathleen Scott, as soon as possible.
Once you connect with the Family Program Representative, you can expect to receive a packet from the Hunter’s Hope Research Team. After answering some questions about your child, simply send the packet back to the Research Team. As the team members and the Clinical Director of the HJKRI review the information provided, you may be contacted by the Clinical Care and Research Coordinator for additional medical records or specialist’s contact information.
By enrolling your child in the WWR, you are providing invaluable information that makes advancements toward better treatments and ultimately a cure for Krabbe and other Leukodystrophies.
All clinical research through the HJKRI is built around the information contained in the WWR. The following projects are providing a more in-depth understanding of the genotype/phenotype correlation, or the long-term outcomes for the various types of Krabbe Disease. The team at the HJKRI works closely with experts across the country to accomplish this goal.
Krabbe Mutation Database
Preliminary results from Dieter Matern, MD, PhD and Joseph Orsini, PhD suggest that measuring psychosine in newborn dried blood spots could serve as a second tier test for Krabbe newborn screening. Furthermore, this could also help determine disease progression in late onset Krabbe, as well as potential for disease progression following transplant.
Longitudinal Pediatric Data Resource
The HJKRI is taking steps to begin utilizing the LPDR, as it is the perfect format to house information contained in the WWR. Members from the Multi-State Krabbe Consortium will also be able to gather and store medical information from children who receive a positive screen for Krabbe Disease. The ability to follow children with Krabbe Disease using a centralized resource such as the LPDR, will greatly enhance the ability to correlate clinical outcomes with the genetic mutation causing the disease. Furthermore, this software provides the infrastructure to establish consistent long term follow up for children who receive a positive screen for Krabbe Disease.
Using MRIs to Help Diagnose Different Forms of Krabbe Disease
Currently, New York State Consortium members and researchers at the HJKRI are sending MRI discs from Krabbe patients for review by Mount Sinai School of Medicine's Thomas Naidich, MD, in an effort to correlate neuroradiological findings with onset, severity, and disease course.
Whole Genome Sequencing
Lysosomal Disease Network
The fact that the Lysosomal Disease Network consists of geographically-dispersed participating primary and affiliated institutions is the key to its effectiveness. Since each of these diseases is rare in the general population, for any given disease, no single institution serves a large number of these patients. For any particular lysosomal disease research study, the participating Lysosomal Disease Network institutions conduct their research in close cooperation with one another, almost as if they were one single institution. This approach maximizes the number of available research subjects for each researched disease, greatly increasing the scope and validity of the new knowledge gained through these multi-site research studies.
For more information please visit www.LysosomalDiseaseNetwork.org