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

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.

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

Sponsors & Collaborators

• Children's Hospital of Philadelphia

  lead OTHER

Principal Investigators

• Adeline Vanderver, MD · Children's Hospital of Philadelphia

Eligibility

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2017-01-06

Primary Completion

2023-10-31

Completion

2024-10-31

Countries

• United States

Study Locations