LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Public ClinicalTrials.gov record NCT02699190. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT02699190
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 236 participants
Conditions and interventions
Conditions
- Leukodystrophy
- White Matter Disease
- 4H Syndrome
- Adrenoleukodystrophy
- AMN
- ALD
- ALD (Adrenoleukodystrophy)
- X-linked Adrenoleukodystrophy
- X-ALD
- Adrenomyeloneuropathy
- Aicardi Goutieres Syndrome
- AGS
- Alexander Disease
- Alexanders Leukodystrophy
- AxD
- ADLD
- Canavan Disease
- CTX
- Cerebrotendinous Xanthomatoses
- Krabbe Disease
- GALC Deficiency
- Globoid Leukodystrophy
- TUBB4A-Related Leukodystrophy
- H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum
- HBSL
- HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity
- LBSL
- Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)
- Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
- ALSP
- CSF1R Gene Mutation
- HCC - Hypomyelination and Congenital Cataract
- MLC1
- Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
- MLD
- Metachromatic Leukodystrophy
- PMD
- Pelizaeus-Merzbacher Disease
- PLP1 Null Syndrome
- PLP1 Gene Duplication | Blood or Tissue | Mutations
- Pelizaeus-Merzbacher-Like Disease, 1
- Peroxisomal Biogenesis Disorder
- Zellweger Syndrome
- Refsum Disease
- Salla Disease
- Sialic Storage Disease
- Sjögren
- Sjogren-Larsson Syndrome
- Van Der Knapp Disease
- Vanishing White Matter Disease
- Charcot-Marie-Tooth
- CMT
- Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
- Allan-Herndon-Dudley Syndrome
- Cadasil
- Cockayne Syndrome
- Multiple Sulfatase Deficiency
- Gangliosidoses
- GM2 Gangliosidosis
- BPAN
- Labrune Syndrome
- LCC
- Mucopolysaccharidoses
- TBCK-Related Intellectual Disability Syndrome
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Up to 18 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jan 5, 2017
- Primary completion
- Oct 30, 2023
- Completion
- Oct 30, 2024
- Last update posted
- Nov 9, 2025
2017 – 2024
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| The Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT02699190, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Nov 9, 2025 · Synced Sep 6, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT02699190 live on ClinicalTrials.gov.