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.
Study identification
- NCT ID
- NCT02699190
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Enrollment
- 236 participants
Conditions and interventions
Conditions
- 4H Syndrome
- ADLD
- AGS
- ALD
- ALD (Adrenoleukodystrophy)
- ALSP
- AMN
- Adrenoleukodystrophy
- Adrenomyeloneuropathy
- Aicardi Goutieres Syndrome
- Alexander Disease
- Alexanders Leukodystrophy
- Allan-Herndon-Dudley Syndrome
- AxD
- CMT
- CSF1R Gene Mutation
- CTX
- Cadasil
- Canavan Disease
- Cerebrotendinous Xanthomatoses
- Charcot-Marie-Tooth
- Cockayne Syndrome
- GALC Deficiency
- Globoid Leukodystrophy
- H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum
- HBSL
- HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity
- HCC - Hypomyelination and Congenital Cataract
- Krabbe Disease
- LBSL
- Leukodystrophy
- Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)
- Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
- MLC1
- MLD
- Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
- Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
- Metachromatic Leukodystrophy
- Multiple Sulfatase Deficiency
- PLP1 Gene Duplication | Blood or Tissue | Mutations
- PLP1 Null Syndrome
- PMD
- Pelizaeus-Merzbacher Disease
- Pelizaeus-Merzbacher-Like Disease, 1
- Peroxisomal Biogenesis Disorder
- Refsum Disease
- Salla Disease
- Sialic Storage Disease
- Sjogren-Larsson Syndrome
- Sjögren
- TUBB4A-Related Leukodystrophy
- Van Der Knapp Disease
- Vanishing White Matter Disease
- White Matter Disease
- X-ALD
- X-linked Adrenoleukodystrophy
- Zellweger 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 May 20, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT02699190 live on ClinicalTrials.gov.