CompletedNot Applicable

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

United States236 participantsStarted 2017-01-06

Plain-language summary

Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes. While recent work has demonstrated that whole genome sequencing (WGS), has the potential to dramatically increase diagnostic efficiency, significant questions remain around the impact on downstream clinical management approaches versus standard diagnostic approaches.

Who can participate

Age range18 Years

SexALL

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Inclusion criteria

✓. Abnormalities of the white matter signal on neuroimaging (MRI) with T2 hyperintensity which must be diffuse or involve specific anatomical tracts consistent with a genetic diagnosis;
✓. No pre-existing genetic diagnosis;
✓. A clinical decision has been made to perform WGS;
✓. Less than 18 years of age (exception for the affected sibling of the proband);
✓. Availability of both biologic parents for blood sampling;
✓. Availability of both biological parents to provide informed consent;
✓. Concurrently enrolled in CHOP IRB 14-011236 (Myelin Disorders Biorepository Project)

Exclusion criteria

✕. Candidates with acquired disorders, including infection, acute disseminated encephalomyelitis (ADEM), multiple sclerosis, vasculitis or toxic leukoencephalopathies;
✕. Patients who have had previous genetic testing\*, including WES or WGS;
✕. Those with no third-party payer insurance, unable to receive standard of care diagnosis and therapeutic approaches;
✕. Candidates who have already received a diagnosis.

What they're measuring

Changes in Diagnosis Status (Resulting From WGS)

Timeframe: 12 months

Trial details

NCT IDNCT02699190

SponsorChildren's Hospital of Philadelphia

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2023-10-31

Results submitted2025-05-09

View on ClinicalTrials.gov More Leukodystrophy trials