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

NCT ID NCT02699190

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

236 people

The number who actually took part.

Started

Jan 2017

Finished

Oct 2024

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

We expect participants to be identified during their initial presentation and preliminary diagnostic workup. Leukodystrophies are heritable conditions that - with only few exceptions - are not gender-specific. We therefore expect males and females to be equally represented in the study population. The age of presentation is variable ranging from infancy to adulthood, though enrollment for the study is limited to individuals who have not yet reached the age of 18. All ethnicities are equally represented in these disorders, and we expect ethnicities to be represented based on US census data of population distribution.

Ages

Up to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: 1. Abnormalities of the white matter signal on neuroimaging (MRI) with T2 hyperintensity which must be diffuse or involve specific anatomical tracts consistent with a genetic diagnosis; 2. No pre-existing genetic diagnosis; 3. A clinical decision has been made to perform WGS; 4. Less than 18 years of age (exception for the affected sibling of the proband); 5. Availability of both biologic parents for blood sampling; 6. Availability of both biological parents to provide informed consent; 7. Concurrently enrolled in CHOP IRB 14-011236 (Myelin Disorders Biorepository Project) Exclusion Criteria: 1. Candidates with acquired disorders, including infection, acute disseminated encephalomyelitis (ADEM), multiple sclerosis, vasculitis or toxic leukoencephalopathies; 2. Patients who have had previous genetic testing\*, including WES or WGS; 3. Those with no third-party payer insurance, unable to receive standard of care diagnosis and therapeutic approaches; 4. Candidates who have already received a diagnosis. * Note: Karyotype or microarray testing that did not yield a definitive diagnosis should not be considered as an excluding factor.

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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

Other studies related to the condition(s) this trial covers.