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Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease

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ClinicalTrials.gov Identifier: NCT00787865
Recruitment Status : Active, not recruiting
First Posted : November 10, 2008
Last Update Posted : November 5, 2019
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Maria Escolar, University of Pittsburgh

Tracking Information
First Submitted Date November 7, 2008
First Posted Date November 10, 2008
Last Update Posted Date November 5, 2019
Study Start Date April 2008
Estimated Primary Completion Date April 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: November 7, 2008)
Diffusion tensor imaging (DTI) of corticospinal tracts [ Time Frame: at birth, 1 year and 2 years of age ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: November 7, 2008)
  • 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 ]
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
Official Title Diffusion Tensor Imaging (DTI) as a Tool to Identify Infants With Krabbe Disease in Urgent Need of Treatment
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.
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 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.

Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.
Condition Krabbe Disease
Intervention Not Provided
Study Groups/Cohorts
  • 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
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: December 1, 2008)
100
Original Estimated Enrollment
 (submitted: November 7, 2008)
343
Estimated Study Completion Date April 2026
Estimated Primary Completion Date April 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

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).
Sex/Gender
Sexes Eligible for Study: All
Ages up to 17 Years   (Child)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00787865
Other Study ID Numbers PRO11050010
R01NS061965 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Maria Escolar, University of Pittsburgh
Study Sponsor Maria Escolar
Collaborators National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Maria L Escolar, MD, MS University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh-UPMC
PRS Account University of Pittsburgh
Verification Date November 2019