Canavan disease
MONDO:0010079A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Also known as: ACY2 deficiency, Canavan disease, Canavan-VAN Bogaert-Bertrand disease, aminoacylase 2 deficiency, aspartoacylase deficiency, spongy degeneration of central nervous system, spongy degeneration of the brain, Acy2 deficiency
6 clinical trials for this condition and its sub-types.
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Broader categories
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Scientists track canavan disease in 67 children to map its progression
Knowledge-focused CompletedThis study followed 67 children with Canavan disease, a rare genetic brain disorder, to learn how the condition naturally changes over time. Researchers reviewed medical records and conducted checkups to track symptoms, milestones, and disease progression. The goal was to better …
Sponsor: Aspa Therapeutics • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:08 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis 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