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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Gene therapy breakthrough offers hope for rare brain disease
Disease control ENROLLING_BY_INVITATIONThis study tests a single dose of AVASPA gene therapy given directly into the brain of children with Canavan disease, a rare and severe genetic disorder that damages white matter. The therapy aims to restore a missing enzyme to help the brain produce myelin and slow disease progr…
Phase: PHASE1, PHASE2 • Sponsor: Myrtelle Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:57 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC