This trial is active, not recruiting.

Condition krabbe disease
Sponsor Maria Escolar
Collaborator National Institute of Neurological Disorders and Stroke (NINDS)
Start date April 2008
End date April 2021
Trial size 100 participants
Trial identifier NCT00787865, PRO11050010, R01NS061965


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model case-control
Time perspective prospective
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

Primary Outcomes

Diffusion tensor imaging (DTI) of corticospinal tracts
time frame: at birth, 1 year and 2 years of age

Secondary Outcomes

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

Eligibility Criteria

All participants up to 17 years old.

Inclusion Criteria: 1. Positive newborn screening test (low galactocerebrosidase) 2. 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 3. Children at risk of developing motor disability Exclusion Criteria: 1. 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 2. 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 3. Children who may have a contraindication for MRI (pacemaker, vascular stents, metallic ear tubes, other metal implants or braces).

Additional Information

Official title Diffusion Tensor Imaging (DTI) as a Tool to Identify Infants With Krabbe Disease in Urgent Need of Treatment
Principal investigator Maria L Escolar, MD, MS
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 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.
Trial information was received from ClinicalTrials.gov and was last updated in February 2017.
Information provided to ClinicalTrials.gov by University of Pittsburgh.