ORPHA:314911
Severe Canavan disease
Also known as: Infantile Canavan disease · Neonatal Canavan disease
Publications
6
15.2th percentile
Trials
1
Interventional, condition-specific
Researchers
34
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe and .
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:0017830
- UMLS:C5575558
Additional Mondo synonyms (2)
infantile Canavan disease · neonatal Canavan disease
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
6 matched papers (3 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
6
6 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
6 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).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 6 · MeSH hits: 0
Who's working on it?
34
Distinct author names in 6 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.
- 01Ahmed AE1 paper · 2017
Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 02Amin M1 paper · 2017
Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 03Appu AP1 paper · 2017
Department of Anatomy, Physiology and Genetics and Neuroscience Program, Uniformed Services University of the Health SciencesBethesda, MD, United States.
Papers in Europe PMC - 04Arun P1 paper · 2017
Department of Anatomy, Physiology and Genetics and Neuroscience Program, Uniformed Services University of the Health SciencesBethesda, MD, United States.
Papers in Europe PMC - 05Bilaniuk LT1 paper · 2016
Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 06Chakrabarty B1 paper · 2016
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 07
- 08El Abd HS1 paper · 2016
Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain-Shams University, Cairo, 11665, Egypt.
Papers in Europe PMC - 09Elsayed L1 paper · 2017
Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Papers in Europe PMC - 10Francis JS1 paper · 2016
Department of Cell Biology, Cell & Gene Therapy Center, Rowan School of Osteopathic Medicine, Stratford, NJ, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 5 trials are registered for Canavan disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: Canavan disease
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04833907·ENROLLING BY INVITATION·rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
Conditions: Canavan Disease·Matched via name phrase
- NCT04998396·RECRUITING·A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
Conditions: Canavan Disease·Matched via name phrase
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 2026-07-26This 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.
"Severe Canavan disease" OR "Infantile Canavan disease" OR "Neonatal Canavan disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe Canavan disease" OR "Infantile Canavan disease" OR "Neonatal Canavan disease"
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Canavan disease"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T13:14:33.648Z