ORPHA:141
Canavan disease
Also known as: ACY2 deficiency · Aminoacylase 2 deficiency · Aspartoacylase deficiency · Spongy degeneration of the brain
Publications
6,454
Trials
6
Interventional, condition-specific
Researchers
1,470
Distinct authors in sample
Gene link
ASPA
Definitive
Readiness
6/6
Stages with a signal
Clinical definition (Orphanet)
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe , and a very rare mild/juvenile form characterized by mild .
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010079
- MeSH:D017825
- OMIM:271900
- UMLS:C0206307
- NCIT:C84611
Additional Mondo synonyms (5)
Canavan-VAN Bogaert-Bertrand disease · aminoacylase 2 deficiency · aspartoacylase deficiency · spongy degeneration of central nervous system · spongy degeneration of the brain
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
6/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ASPA
- LiteraturePresent
6,454 matched papers (4,002 in last 10 years) Source
- Phenotype characterisedPresent
92 HPO annotations (e.g. Bilateral tonic-clonic seizure; Nystagmus; Elevated urine N-acetylaspartic acid level) Source
- Animal modelPresent
8 genotype models (Mus musculus) Source
- Orphan designationPartial
2 EMA designations (none yet with FDA orphan-indication approval) — e.g. recombinant adeno-associated virus Olig001 containing human aspartoacylase cDNA Source
- Interventional trialPresent
6 matched on ClinicalTrials.gov (2 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ASPA).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
92
Associated phenotypes · MONDO:0010079
- Bilateral tonic-clonic seizure
- Nystagmus
- Elevated urine N-acetylaspartic acid level
- Epileptic spasm
- Increased circulating N-acetylaspartic acid concentration
Showing 5 of 92 — open Monarch for the full list.
Animal models (Monarch / Alliance)
8
Model associations linked to this Mondo ID
- Aspanur7/Aspanur7 [background:] involves: C57BL/6J·MGI:3027206·Mus musculus
- Aspadeaf14/Aspadeaf14 [background:] BALB/c-Aspadeaf14·MGI:5787605·Mus musculus
- Aspatm1Mata/Aspatm1Mata [background:] involves: 129S5/SvEvBrd·MGI:3038607·Mus musculus
- Aspanur7/Aspanur7 [background:] STOCK Aspanur7/J·MGI:7660718·Mus musculus
- Sod2tm1Cje/Sod2tm1Cje [background:] involves: C57BL/6J·MGI:3639891·Mus musculus
- Aspatm1a(EUCOMM)Wtsi/Aspatm1a(EUCOMM)Wtsi [background:] involves: C57BL/6J * C57BL/6N·MGI:5008609·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
2
Designations · no FDA orphan-indication approval yet
- EMA recombinant adeno-associated virus Olig001 containing human aspartoacylase cDNATreatment of Canavan disease · 09/12/2022 · PositiveEMA designation
- EMA adeno-associated virus serotype 9 containing the human ASPA geneTreatment of Canavan disease · 04/06/2020 · PositiveEMA designation
Sources: FDA OOPD · EMA orphan designations
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
6,454
6,454 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
6,454 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
4,002 in the last 10 years · low confidence
Phrase hits: 1,433 · MeSH hits: 0
Who's working on it?
1,470
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Wang Y13 papers · 2026
Institute for Pediatric Regenerative Medicine, University of California, Davis, Sacramento, CA 95817, USA.
Papers in Europe PMC - 02Feng L6 papers · 2026
Shenzhen Eye Hospital, Shenzhen Eye Institute, Jinan University, Shenzhen, China.
Papers in Europe PMC - 03Li Y6 papers · 2026
Department of Pharmacy Sciences, School of Pharmacy, Southwest Medical University, Luzhou, Sichuan, 646000, People's Republic of China.
Papers in Europe PMC - 04Lindorff-Larsen K6 papers · 2026
Linderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Ole Maaløes Vej 5, DK2200N Copenhagen, Denmark.
Papers in Europe PMC - 05Sun G6 papers · 2026
Division of Stem Cell Biology Research, Department of Stem Cell Biology and Regenerative Medicine, Beckman Research Institute of City of Hope, 1500 E. Duarte Road, Duarte, CA 91010, USA.
Papers in Europe PMC - 06Burns T5 papers · 2024
Institute for Pediatric Regenerative Medicine, University of California, Davis, Sacramento, CA 95817, USA.
Papers in Europe PMC - 07Chao J5 papers · 2026
Division of Stem Cell Biology Research, Department of Stem Cell Biology and Regenerative Medicine, Beckman Research Institute of City of Hope, 1500 E. Duarte Road, Duarte, CA 91010, USA.
Papers in Europe PMC - 08Grønbæk-Thygesen M5 papers · 2026
Linderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Ole Maaløes Vej 5, DK2200N Copenhagen, Denmark.
Papers in Europe PMC - 09Guo F5 papers · 2024
Institute for Pediatric Regenerative Medicine, University of California, Davis, Sacramento, CA 95817, USA.
Papers in Europe PMC - 10Hartmann-Petersen R5 papers · 2026
Linderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Ole Maaløes Vej 5, DK2200N Copenhagen, Denmark.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 11 September 2026 · last trial check 28 July 2026
6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).
low confidence · 90.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04998396·RECRUITING·A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
Not reviewed·Conditions: Canavan Disease·Matched via name phrase
- NCT04833907·ENROLLING BY INVITATION·rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
Not reviewed·Conditions: Canavan Disease·Matched via name phrase
Observational and natural-history studies
5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT03047369·RECRUITING·The Myelin Disorders Biorepository Project
Not reviewed·Conditions: Leukodystrophy · White Matter Disease · Leukoencephalopathies · 4H Syndrome·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (1)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Canavan disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Canavan disease" OR "ACY2 deficiency" OR "Aminoacylase 2 deficiency" OR "Aspartoacylase deficiency" OR "Spongy degeneration of the brain" OR "Spongy degeneration of brain" OR "Canavan-VAN Bogaert-Bertrand disease" OR "spongy degeneration of central nervous system" OR "spongy degeneration of the central nervous system") OR ("ASPA" OR "ASPA syndrome" OR "ASPA-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Canavan disease" OR "ACY2 deficiency" OR "Aminoacylase 2 deficiency" OR "Aspartoacylase deficiency" OR "Spongy degeneration of the brain" OR "Spongy degeneration of brain" OR "Canavan-VAN Bogaert-Bertrand disease" OR "spongy degeneration of central nervous system" OR "spongy degeneration of the central nervous system"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 6 interventional · 5 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (6454) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T12:36:58.917Z