Brain scan breakthrough could save babies from rare disease
NCT ID NCT00787865
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and followed for two years. The goal is to catch the disease early enough to prevent severe disability.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 100 people
The number the study aims to enrol. It can still change while the study runs.
- Start date
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Apr 2008
- Expected to finish
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Apr 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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Up to 17 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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).
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15213, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can a repurposed drug slow rare childhood brain diseases?
- Global krabbe disease registry aims to decode early warning signs
- Newborn screening study aims to catch rare diseases at birth
- Gene therapy after stem cell transplant shows promise for rare brain disease
- Major study tracks rare brain diseases to unlock their secrets
- Gene therapy boost for krabbe patients after transplant