An observational study in MLD, Krabbe Disease and ALD, sponsored by University of Pittsburgh. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-02-09.
Sponsored by University of Pittsburgh · Observational
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Patients would be evaluated by a multidisciplinary team at specific time points every 3 months the first year, every 6 months the second year and once a year thereafter.
31 studies on the registry are indexed under Leukodystrophy, Globoid Cell; 8 are open to participants now.
This study's planned enrollment of 1,500 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.
Persons with genetic neurodegenerative diseases.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Collecting information about the natural progression of these diseases
Following patients who have received HSCT as part of their clinical care.
Cognitive development
Repeated standardized age equivalent scores.
Time frame: 15 years
Language development
Repeated standardized age equivalent scores.
Time frame: 15 years
Gross Motor development .
Repeated standardized age equivalent scores.
Time frame: 15 years
Fine Motor development
Repeated standardized age equivalent scores.
Time frame: 15 years
Adaptive living skills
Repeated standardized age equivalent scores.
Time frame: 15 years
Exploratory biomarkers
Blood, CSF and urine
Time frame: 15 years
Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age
Specialized technique to use DTI data to measure brain degeneration over time
Time frame: 5 years
Plan to share: Undecided — The IPD will be shared after review and only under a DTA, CDA through our office of research.
No publications or documents are linked to this record.
Started Jan 2012 (actual). Primary completion is estimated for Jan 2030, 216 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Leukodystrophy, Globoid Cell →