Inborn aminoacylase deficiency
MONDO:0017686An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.
Also known as: inborn aminoacylase activity disorder, inborn error of aminoacylase activity, rare inborn error of aminoacylase activity, aminoacylase deficiency
6 clinical trials for this condition and its sub-types, 0 tagged with Inborn aminoacylase deficiency itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Inborn aminoacylase deficiency
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Canavan disease 6 trials
2 sub-types
- Mild Canavan disease 0 trials
- Severe Canavan disease 0 trials
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Aminoacylase 1 deficiency 0 trials
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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