Could a single DNA test solve the mystery of rare brain diseases in kids?

NCT ID NCT02699190

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

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 diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known genetic cause. The goal was to see if this genetic test could change the diagnosis and guide medical care. The study is complete, and results may show how useful this approach is for families seeking answers.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance
whole genome sequencing (a genetic test that reads all of a person's DNA)
What this could lead to
If successful, this could make whole genome sequencing a standard first test for diagnosing leukodystrophies, leading to faster and more accurate diagnoses for children with these rare brain diseases.
What could go wrong
This is an observational study, not a treatment trial. It only looks at diagnostic changes, not whether patients get better. The results may not apply to all types of leukodystrophies or to older patients.

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Conditions

The condition(s) this trial relates to.

adrenoleukodystrophy adrenomyeloneuropathy adult Refsum disease adult-onset autosomal dominant demyelinating leukodystrophy Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 1 Alexander disease Alexanders leukodystrophy Allan-Herndon-Dudley syndrome attention deficit hyperactivity disorder, inattentive type Canavan disease cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebrotendinous xanthomatosis Charcot-Marie-Tooth disease Cockayne syndrome free sialic acid storage disease Gangliosidoses gangliosidosis GM2 gangliosidosis hypomyelinating leukodystrophy 2 hypomyelinating leukodystrophy 5 hypomyelinating leukodystrophy 6 hypomyelination with brain stem and spinal cord involvement and leg spasticity Krabbe disease leukodystrophy leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Leukoencephalopathies leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukoencephalopathy with calcifications and cysts leukoencephalopathy with vanishing white matter leukoencephalopathy, diffuse hereditary, with spheroids 1 megalencephalic leukoencephalopathy with subcortical cysts megalencephalic leukoencephalopathy with subcortical cysts 1 metachromatic leukodystrophy mucopolysaccharidosis mucosulfatidosis neurodegeneration with brain iron accumulation 5 null syndrome Pelizaeus-Merzbacher spectrum disorder Peroxisomal Disorders peroxisome biogenesis disorder Salla disease Sialic Acid Storage Disease Sjogren syndrome Sjogren-Larsson syndrome TUBB4A-related neurologic disorder 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 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 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 Β-CTX

Contacts and locations

Locations

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

More trials for these conditions

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