Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
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Purpose
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 |
|---|
|
Krabbe Disease |
| Study Type: | Observational |
| Study Design: | Observational Model: Case Control Time Perspective: Prospective |
| Official Title: | Diffusion Tensor Imaging (DTI) as a Tool to Identify Infants With Krabbe Disease in Urgent Need of Treatment |
- Diffusion tensor imaging (DTI) of corticospinal tracts [ Time Frame: at birth, 1 year and 2 years of age ] [ Designated as safety issue: No ]
- Motor development at birth, 1 year and 2 years of age [ Time Frame: at birth, 1 year and 2 years of age ] [ Designated as safety issue: No ]
- Analysis of DTI-Fractional Diffusion Anisotropy (FA) values of corticospinal tracts of newborns [ Time Frame: at age (newborn-6 weeks), 12-months and 24-months ] [ Designated as safety issue: No ]
| 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 |
|---|
|
Krabbe Disease
Children with infantile Krabbe disease
|
|
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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Motor Disability
Children at risk of developing motor disability
|
Detailed Description:
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.
Eligibility| Ages Eligible for Study: | up to 17 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Children with a low levels of galactocerebrosidase, a family history of Krabbe disease or has been diagnosed with Krabbe disease, or is a child at risk of developing motor disability. Newborn screening State of New York and newborns with low enzyme identified through the Lysosomal Storage Disorders Laboratory at Thomas Jefferson University.
Inclusion Criteria:
- Positive newborn screening test (low galactocerebrosidase)
- Infantile Krabbe Disease diagnosed by confirmatory low levels of residual enzyme by Dr. Wenger's Lysosmal Storage Diseases laboratory at Jefferson's Medical College (contracted by New York State) and/or carrier status established because of family history of Krabbe Disease. Patients have to be less than 6 weeks old at the time of the first assessment
- Children at risk of developing motor disability
Exclusion Criteria:
- Diagnosis or physical signs of known genetic conditions or syndromes, serious medical or neurological conditions affecting growth and development (e.g., seizure disorder, diabetes, congenital heart disease) or sensory impairments such as vision or hearing loss
- Children who may have suffered serious perinatal brain damage, children with birth weights less than 2000 grams and/or gestational ages of less than 34 weeks, or those with a history of intraventricular hemorrhage
- Children who may have a contraindication for MRI (pacemaker, vascular stents, metallic ear tubes, other metal implants or braces).
Contacts and Locations| Contact: Sarah E Evans, B.A. | 412-692-6350 | sarah.evans@chp.edu |
| Contact: Tara West, CPNP | 412-692-6352 | tara.west@chp.edu |
| United States, Pennsylvania | |
| University of Pittsburgh, Children's Hospital of Pittsburgh-UPMC | Recruiting |
| Pittsburgh, Pennsylvania, United States, 15213 | |
| Contact: Sarah E Evans, B.A. 412-692-6350 sarah.evans@chp.edu | |
| Contact: Tara West, CPNP 412-692-6352 tara.west@chp.edu | |
| Principal Investigator: Maria L Escolar, MD, MS | |
| Principal Investigator: | Maria L Escolar, MD, MS | University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh-UPMC |
More Information
Additional Information:
Publications:
| Responsible Party: | University of Pittsburgh |
| ClinicalTrials.gov Identifier: | NCT00787865 History of Changes |
| Other Study ID Numbers: | PRO11050010, R01NS061965 |
| Study First Received: | November 7, 2008 |
| Last Updated: | September 5, 2012 |
| Health Authority: | United States: Federal Government United States: Institutional Review Board |
Keywords provided by University of Pittsburgh:
|
Diffusion Tensor Imaging DTI Newborn |
Krabbe Disease Motor Development Motor Disability |
Additional relevant MeSH terms:
|
Leukodystrophy, Globoid Cell Hereditary Central Nervous System Demyelinating Diseases Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Sphingolipidoses Lysosomal Storage Diseases, Nervous System |
Leukoencephalopathies Demyelinating Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |
ClinicalTrials.gov processed this record on June 17, 2013