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Megalencephalic leukoencephalopathy with subcortical cysts 1

MONDO:0024555

Also known as: megalencephalic leukoencephalopathy with subcortical cysts, megalencephalic leukoencephalopathy with subcortical cysts 1, Lvm, MLC1, VL, Vacuolating megalencephalic leukoencephalopathy with subcortical cysts, Van Der Knaap disease, leukoencephalopathy with swelling and cysts

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Nervous system disorder (243) Hereditary disease (188) Neurodegenerative disease (182) Brain disorder (131) Central nervous system disorder (115) Human disease (15) Inherited neurodegenerative disorder (10) Hereditary neurological disease (6) Leukodystrophy (5)

Trials to join now! 1 Completed 1

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

Knowledge-focused Completed

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 gen…

Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:56 UTC