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Gene sequencing breakthrough offers faster diagnosis for rare brain diseases

NCT ID NCT02699190

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

First seen Nov 11, 2025 · Last updated Jun 13, 2026 · Updated 26 times

Summary

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain disorders affecting white matter, more effectively than standard methods. Researchers enrolled 236 children under 18 with abnormal brain MRI scans but no prior genetic diagnosis. The goal was to see if this advanced genetic test could change diagnosis and guide treatment decisions.

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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