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Gene sequencing breakthrough could unlock mysteries of rare brain diseases in kids

NCT ID NCT02699190

Completed Knowledge-focused Sponsor: Children's Hospital of Philadelphia Source: ClinicalTrials.gov ↗

First seen Nov 11, 2025 · Last updated May 13, 2026 · Updated 22 times

Summary

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help doctors more accurately diagnose children with leukodystrophies—rare diseases that damage the brain's white matter. Researchers enrolled 236 children and their parents to see if this advanced genetic test could find the cause when standard tests failed. The goal was to improve diagnosis and guide better care for these hard-to-identify conditions.

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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 AICARDI GOUTIERES SYNDROME ALD ALD (ADRENOLEUKODYSTROPHY) ALEXANDER DISEASE ALEXANDERS LEUKODYSTROPHY ALLAN-HERNDON-DUDLEY SYNDROME ALLAN-HERNDON-DUDLEY SYNDROME ALSP ALSP AMN AXD BPAN CADASIL CADASIL CANAVAN DISEASE CEREBROTENDINOUS XANTHOMATOSES CHARCOT-MARIE-TOOTH CMT COCKAYNE SYNDROME CSF1R GENE MUTATION 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 TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME TUBB4A-RELATED LEUKODYSTROPHY VAN DER KNAPP DISEASE VAN DER KNAPP DISEASE VANISHING WHITE MATTER DISEASE WHITE MATTER DISEASE X-ALD X-LINKED ADRENOLEUKODYSTROPHY ZELLWEGER SYNDROME