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

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Locations

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Conditions

The condition(s) this trial relates to.

adrenoleukodystrophy adult Refsum disease Aicardi-Goutieres syndrome Alexander disease Alexanders leukodystrophy Allan-Herndon-Dudley syndrome attention deficit hyperactivity disorder, inattentive type Canavan disease cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebrotendinous xanthomatosis Charcot-Marie-Tooth disease Cockayne syndrome Gangliosidoses GM2 gangliosidosis hypomyelinating leukodystrophy 2 hypomyelinating leukodystrophy 5 hypomyelinating leukodystrophy 6 Krabbe disease Leukoencephalopathies leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukoencephalopathy with calcifications and cysts megalencephalic leukoencephalopathy with subcortical cysts metachromatic leukodystrophy mucopolysaccharidosis mucosulfatidosis Pelizaeus-Merzbacher spectrum disorder Peroxisomal Disorders Sialic Acid Storage Disease Sjogren syndrome Sjogren-Larsson syndrome Zellweger spectrum disorders

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

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 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 &#X7C; BLOOD OR TISSUE &#X7C; 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 Β-CTX