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New gene test cuts diagnosis time for devastating childhood brain diseases

NCT ID NCT02699190

Completed Diagnosis Sponsor: Children's Hospital of Philadelphia Source: ClinicalTrials.gov ↗

Summary

This study tested whether using whole genome sequencing (a complete genetic map) as a first test could provide faster and more accurate diagnoses for children with rare, inherited brain disorders called leukodystrophies. Researchers compared the new approach to the standard step-by-step testing process. They found the genetic mapping method led to diagnoses much quicker and for more children than the traditional way.

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Contacts and locations

Locations

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

Conditions

Explore the condition pages connected to this study.

4H SYNDROME ADLD ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY AGS AICARDI GOUTIERES SYNDROME ALD ALD (ADRENOLEUKODYSTROPHY) ALEXANDER DISEASE ALEXANDERS LEUKODYSTROPHY ALLAN-HERNDON-DUDLEY SYNDROME ALSP AMN AXD BPAN CADASIL CANAVAN DISEASE CEREBROTENDINOUS XANTHOMATOSES CHARCOT-MARIE-TOOTH CMT COCKAYNE SYNDROME CSF1R GENE MUTATION CTX GALC DEFICIENCY GANGLIOSIDOSES GLOBOID LEUKODYSTROPHY GM2 GANGLIOSIDOSIS 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 LABRUNE SYNDROME LBSL LCC LEUKODYSTROPHY LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND HIGH LACTATE SYNDROME (DISORDER) LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 METACHROMATIC LEUKODYSTROPHY MLC1 MLD MUCOPOLYSACCHARIDOSES MULTIPLE SULFATASE DEFICIENCY PELIZAEUS-MERZBACHER DISEASE PELIZAEUS-MERZBACHER-LIKE DISEASE, 1 PEROXISOMAL BIOGENESIS DISORDER PLP1 GENE DUPLICATION | BLOOD OR TISSUE | MUTATIONS PLP1 NULL SYNDROME PMD REFSUM DISEASE SALLA DISEASE SIALIC STORAGE DISEASE SJOGREN-LARSSON SYNDROME SJÖGREN TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME TUBB4A-RELATED LEUKODYSTROPHY VAN DER KNAPP DISEASE VANISHING WHITE MATTER DISEASE WHITE MATTER DISEASE X-ALD X-LINKED ADRENOLEUKODYSTROPHY ZELLWEGER SYNDROME