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Sponsors and Collaborators: |
National Institute of Neurological Disorders and Stroke (NINDS) New York State Department of Health Hunter's Hope |
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Information provided by: | National Institute of Neurological Disorders and Stroke (NINDS) |
ClinicalTrials.gov Identifier: | NCT00787865 |
This study is designed to learn about early brain development in children with Krabbe disease, and to use diffusion tensor imaging as an early diagnostic tool to identify newborns at risk for the disease.
Condition |
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Krabbe Disease |
Study Type: | Observational |
Study Design: | Case Control, Prospective |
Official Title: | Diffusion Tensor Imaging (DTI) as a Tool to Identify Infants With Krabbe Disease in Urgent Need of Treatment |
Estimated Enrollment: | 100 |
Study Start Date: | April 2008 |
Estimated Study Completion Date: | April 2013 |
Estimated Primary Completion Date: | April 2013 (Final data collection date for primary outcome measure) |
Groups/Cohorts |
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Krabbe disease
children with infantile Krabbe disease
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Low enzyme/no Krabbe disease
children without disease who have low enzyme levels
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Control
children with no disease and normal enzyme levels
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This study is designed to learn about early brain development in children with Krabbe disease and to use diffusion tensor imaging (DTI) as an early diagnostic tool to differentiate children with infantile Krabbe disease from newborns who are disease free but have very low enzyme levels.
Additionally, this study will determine how certain structures in the brain will develop over 24 months in children with infantile Krabbe disease and those without disease who have low enzyme levels. This study will also reveal information about the learning and motor development of children, and will help researchers predict outcomes after treatment.
Krabbe disease is a rare, childhood neurodegenerative disorder caused by galactocerebrosidase deficiency. It results in rapid demyelination, progressive spasticity, mental deterioration, blindness, deafness, seizures, and death. Based on previously published findings, treatment with unrelated umbilical cord blood transplantation is now standard for Krabbe disease, provided that the treatment occurs within the first weeks of life and before symptoms appear.
Once newborns are identified through population screening, there is no objective measure to predict if the baby will develop the most frequent rapidly progressive infantile forms of Krabbe or have a slower juvenile or adult form. Phenotype and genotype correlations are not possible because there are more that 75 mutations that can cause the disease and many polymorphisms in the normal population that affect the enzyme level.
There is an urgent clinical need to develop a predictive measure. However, to date, there are no available tools to classify infants into the infantile versus later forms. New advances in neuroimaging techniques have enabled scientists to quantify changes in brain growth and myelination early in life and before disease symptoms develop.
Knowledge from this study will help identify the window of opportunity for early intervention and treatment to prevent severe disability, and may lead to better treatment strategies.
Ages Eligible for Study: | up to 2 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Children with a low galactocerebrosidase level at birth, with a family history of Krabbe disease or that have been diagnosed with infantile Krabbe disease because of symptoms. Newborn screening State of New York and newborns with low enzyme identified through the Lysosomal Storage Disorders Laboratory at Thomas Jefferson University.
Inclusion Criteria:
Exclusion Criteria:
Contact: Jim Kenny | 919-966-6312 | Jim.kenny@cdl.unc.edu |
Contact: Betsy M Glaser, PNP | 919-966-4810 | Betsy.glaser@cdl.unc.edu |
United States, North Carolina | |
University of North Carolina | Recruiting |
Chapel Hill, North Carolina, United States, 27517 | |
Contact: Jim Kenny 919-966-6113 Jim.kenny@cdl.unc.edu | |
Contact: Diana J Dalsimer, BS 919-966-4809 Diana.dalsimer@cdl.unc.edu | |
Principal Investigator: Maria L Escolar, MD, MS |
Principal Investigator: | Maria L Escolar, MD, MS | Director for the Program of Neurodevelopmental Function in Rare Disorders, the University of North Carolina at Chapel Hill |
Investigator: | Martin Styner, PhD | University of North Carolina at Chapel Hill, Co-Investigator |
Investigator: | Michele Poe, PhD | University of North Carolina at Chapel Hill, Co-Investigator |
Responsible Party: | University of North Carolina at Chapel Hill ( Maria Luisa Escolar, MD, MS, Director for the Program of Neurodevelopmental Function in Rare Disorders ) |
Study ID Numbers: | R01NS061965, 1R01NS061965-01 |
Study First Received: | November 7, 2008 |
Last Updated: | December 1, 2008 |
ClinicalTrials.gov Identifier: | NCT00787865 History of Changes |
Health Authority: | United States: Federal Government |
diffusion tension imaging DTI newborn Krabbe disease motor development |
Lipid Metabolism, Inborn Errors Sphingolipidoses Metabolic Diseases Demyelinating Diseases Lysosomal Storage Diseases Sphingolipidosis Central Nervous System Diseases Brain Diseases Leukodystrophy |
Metabolism, Inborn Errors Genetic Diseases, Inborn Brain Diseases, Metabolic, Inborn Lipidoses Metabolic Disorder Leukodystrophy, Globoid Cell Krabbe Leukodystrophy Lipid Metabolism Disorders Brain Diseases, Metabolic |
Lipid Metabolism, Inborn Errors Sphingolipidoses Metabolic Diseases Demyelinating Diseases Lysosomal Storage Diseases, Nervous System Lysosomal Storage Diseases Nervous System Diseases Central Nervous System Diseases Brain Diseases |
Hereditary Central Nervous System Demyelinating Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Brain Diseases, Metabolic, Inborn Lipidoses Leukodystrophy, Globoid Cell Lipid Metabolism Disorders Brain Diseases, Metabolic |