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ORPHA:141

Canavan disease

low confidenceDisorder

Also known as: ACY2 deficiency · Aminoacylase 2 deficiency · Aspartoacylase deficiency · Spongy degeneration of the brain

Publications

1,433

Trials

7

Interventional, condition-specific

Researchers

1,230

Distinct authors in sample

Gene link

ASPA

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ASPA

  2. LiteraturePresent

    1,433 matched papers (596 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    7 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,433

1,433 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,433 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

596 in the last 10 years · low confidence

Phrase hits: 1,433 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,230

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.

  1. 01
    Wang Y12 papers · 2025

    Institute for Pediatric Regenerative Medicine, University of California Davis School of Medicine and Shriners Hospitals for Children, Sacramento, CA.

    Papers in Europe PMC
  2. 02
    Burns T6 papers · 2024

    Institute for Pediatric Regenerative Medicine, University of California Davis School of Medicine and Shriners Hospitals for Children, Sacramento, CA.

    Papers in Europe PMC
  3. 03
    Gao G6 papers · 2026

    Department of Genetic and Cellular Medicine, Horae Gene Therapy Center, University of Massachusetts Chan School of Medicine, Worcester, MA, USA.

    Papers in Europe PMC
  4. 04
    Gessler DJ6 papers · 2026

    Department of Genetic and Cellular Medicine, Horae Gene Therapy Center, University of Massachusetts Chan School of Medicine, Worcester, MA, USA.

    Papers in Europe PMC
  5. 05
    Guo F6 papers · 2024

    Institute for Pediatric Regenerative Medicine, University of California Davis School of Medicine and Shriners Hospitals for Children, Sacramento, CA.

    Papers in Europe PMC
  6. 06
    Pleasure D6 papers · 2024

    Institute for Pediatric Regenerative Medicine, University of California Davis School of Medicine and Shriners Hospitals for Children, Sacramento, CA.

    Papers in Europe PMC
  7. 07
    Shi Y6 papers · 2026

    Department of Neurodegenerative Diseases, Beckman Research Institute of City of Hope, Duarte, CA, United States.

    Papers in Europe PMC
  8. 08
    Sun 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
  9. 09
    Chao 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
  10. 10
    Feng L5 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

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

low confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

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

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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" OR "ASPA"

Recall-expansion terms: ASPA

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: 7 interventional · 5 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (1433) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:36:58.917Z