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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for 4H SYNDROME are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
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.
- Can a repurposed drug slow rare childhood brain diseases?
- Global krabbe disease registry aims to decode early warning signs
- Could a sublingual tablet repair the Brain's leaky barrier in CADASIL?
- Newborn screening study aims to catch rare diseases at birth
- Could your own stem cells heal your brain? new trial tests it
- Dental scans and AI could spot rare bone diseases faster