NCT02699190Completed
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Source: ClinicalTrials.gov · Last updated 10 Nov 2025
Brief summary (registry, in English)
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.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 236 (actual)
- First submitted
- 16 Feb 2016
- Start date
- 6 Jan 2017
- Primary completion date
- 31 Oct 2023
- Lead sponsor
- Children's Hospital of Philadelphia
- Diseases
- Sjögren's disease
- NCT number
- NCT02699190
What you commit to
- Study type: Observational
- Participants enrolled: 236
- From 6 Jan 2017 to the primary completion date, 31 Oct 2023
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Patients who have had previous genetic testing\*, including WES or WGS;
- Candidates who have already received a diagnosis.
- Note: Karyotype or microarray testing that did not yield a definitive diagnosis should not be considered as an excluding factor.
Other illness
- Candidates with acquired disorders, including infection, acute disseminated encephalomyelitis (ADEM), multiple sclerosis, vasculitis or toxic leukoencephalopathies;
Other
- Those with no third-party payer insurance, unable to receive standard of care diagnosis and therapeutic approaches;
Who the study is looking for
- 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)
Age in the registry: - to 18 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| The Children's Hospital Of Philadelphia Coordinator of this site? Confirm its status | Philadelphia | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.