An observational study in Krabbe Disease, sponsored by University of Pittsburgh. Active, not recruiting at 1 site in United States. Open to participants aged Up to 17 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-03-06.
Sponsored by University of Pittsburgh · Observational
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.
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 than 150 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. 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.
31 studies on the registry are indexed under Leukodystrophy, Globoid Cell; 8 are open to participants now.
This study's planned enrollment of 100 is above the median of 55 across 14 observational studies indexed under Leukodystrophy, Globoid Cell.
Browse Leukodystrophy, Globoid Cell studies →University of Pittsburgh is the lead sponsor of 1,419 studies on the registry; 168 are open to participants now.
Of its 9 completed or terminated interventional studies of FDA-regulated products, 4 (44%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
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Exclusion Criteria:
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A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Children with infantile Krabbe disease
Children without disease who have low enzyme levels
Children with no disease and normal enzyme levels
Children at risk of developing motor disability
Diffusion tensor imaging (DTI) of corticospinal tracts
Time frame: at birth, 1 year and 2 years of age
Motor development at birth, 1 year and 2 years of age
Time frame: at birth, 1 year and 2 years of age
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
This study is active, not recruiting, as verified in Mar 2026. You cannot join it, but the record below documents what was studied.
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