Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease

NCT00787865 | Active Not Recruiting

• 2 other identifiers: STUDY20020124R01NS061965
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Krabbe Disease

Keywords

Diffusion Tensor Imaging; DTI; Newborn; Krabbe Disease; Motor Development; Motor Disability

Outcome Measures

Primary Outcomes (1)

• Diffusion tensor imaging (DTI) of corticospinal tracts

  at birth, 1 year and 2 years of age

Secondary Outcomes (2)

• Motor development at birth, 1 year and 2 years of age

  at birth, 1 year and 2 years of age

• Analysis of DTI-Fractional Diffusion Anisotropy (FA) values of corticospinal tracts of newborns

  at age (newborn-6 weeks), 12-months and 24-months

Study Arms (4)

Krabbe Disease

Children with infantile Krabbe disease

Low Enzyme/No Krabbe Disease

Children without disease who have low enzyme levels

Control

Children with no disease and normal enzyme levels

Motor Disability

Children at risk of developing motor disability

Eligibility Criteria

• Age: Up to 17 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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

You may not qualify if:

• 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).

Sponsors & Collaborators

• University of Pittsburgh: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15213, United States

Location

Related Publications (2)

• Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005 May 19;352(20):2069-81. doi: 10.1056/NEJMoa042604.

  PMID: 15901860 BACKGROUND

• Provenzale JM, Escolar M, Kurtzberg J. Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease. Ann N Y Acad Sci. 2005 Dec;1064:220-9. doi: 10.1196/annals.1340.040.

  PMID: 16394159 BACKGROUND

Related Links

• Information about the Program for the Study of Neurodevelopment in Rare Disorders

MeSH Terms

Conditions

Leukodystrophy, Globoid Cell

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Deepa S Rajan, MD

  University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh-UPMC

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: November 7, 2008
• First Posted: November 10, 2008
• Study Start: April 1, 2008
• Primary Completion (Estimated): April 1, 2027
• Study Completion (Estimated): April 1, 2027
• Last Updated: March 6, 2026

Record last verified: 2026-03

Locations

US (1)