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

CompletedOBSERVATIONAL
Enrollment

236

Participants

Timeline

Start Date

January 6, 2017

Primary Completion Date

October 31, 2023

Study Completion Date

October 31, 2024

Conditions
LeukodystrophyWhite Matter Disease4H SyndromeAdrenoleukodystrophyAMNALDALD (Adrenoleukodystrophy)X-linked AdrenoleukodystrophyX-ALDAdrenomyeloneuropathyAicardi Goutieres SyndromeAGSAlexander DiseaseAlexanders LeukodystrophyAxDADLDCanavan DiseaseCTXCerebrotendinous XanthomatosesKrabbe DiseaseGALC DeficiencyGloboid LeukodystrophyTUBB4A-Related LeukodystrophyH-ABC - Hypomyelination, Atrophy of Basal Ganglia and CerebellumHBSLHBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg SpasticityLBSLLeukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate ElevationALSPCSF1R Gene MutationHCC - Hypomyelination and Congenital CataractMLC1Megalencephalic Leukoencephalopathy With Subcortical Cysts 1MLDMetachromatic LeukodystrophyPMDPelizaeus-Merzbacher DiseasePLP1 Null SyndromePLP1 Gene Duplication | Blood or Tissue | MutationsPelizaeus-Merzbacher-Like Disease, 1Peroxisomal Biogenesis DisorderZellweger SyndromeRefsum DiseaseSalla DiseaseSialic Storage DiseaseSjögrenSjogren-Larsson SyndromeVan Der Knapp DiseaseVanishing White Matter DiseaseCharcot-Marie-ToothCMTMct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter DeficiencyAllan-Herndon-Dudley SyndromeCadasilCockayne SyndromeMultiple Sulfatase DeficiencyGangliosidosesGM2 GangliosidosisBPANLabrune SyndromeLCCMucopolysaccharidosesTBCK-Related Intellectual Disability Syndrome
Trial Locations (1)

19104

The Children's Hospital of Philadelphia, Philadelphia

All Listed Sponsors
lead

Children's Hospital of Philadelphia

OTHER

NCT02699190 - LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies | Biotech Hunter | Biotech Hunter