ORPHA:93
Aspartylglucosaminuria
Also known as: Aspartylglucosaminidase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
619
78.4th percentile
Trials
4
Interventional, condition-specific
Researchers
1,009
Distinct authors in sample
Gene link
AGA
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare oligosaccharidosis characterized by facial dysmorphism, and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
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:0008830
- MeSH:D054880
- OMIM:208400
- UMLS:C0268225
- NCIT:C61273
Additional Mondo synonyms (5)
Aspartylglycosaminuria · aspartylglucosaminidase deficiency · aspartylglucosaminuria · aspartylglycosaminuria · glycosylasparaginase deficiency
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.
- Gene identifiedPresent
Definitive — AGA
- LiteraturePresent
619 matched papers (196 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
4 matched on ClinicalTrials.gov (1 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 (AGA).
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?
619
619 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.
619 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).
196 in the last 10 years · medium confidence · 78.4th percentile (publications denominator)
Phrase hits: 619 · MeSH hits: 0
Who's working on it?
1,009
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.
- 01Tikkanen R16 papers · 2026
Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, 35392 Giessen, Germany. Ritva.Tikkanen@biochemie.med.uni-giessen.de.
Papers in Europe PMC - 02Mononen I12 papers · 2016
Department of Clinical Chemistry, Kuopio University Central Hospital, Finland.
Papers in Europe PMC - 03Laine M11 papers · 2026
Department of Pediatric Neurology, Helsinki University Hospital and University of Helsinki, 00029 Helsinki, Finland.
Papers in Europe PMC - 04Banning A10 papers · 2026
Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, 35392 Giessen, Germany. Antje.Banning@biochemie.med.uni-giessen.de.
Papers in Europe PMC - 05Autti T7 papers · 2026
Helsinki Medical Imaging Center, University of Helsinki, Helsinki, Finland.
Papers in Europe PMC - 06Wang Y6 papers · 2024
Department of Physiology and Biophysics, Boston University School of Medicine, 715 Albany Street, Boston, MA 02118-2526, USA.
Papers in Europe PMC - 07Gray SJ5 papers · 2021
Gene Therapy Center and Department of Ophthalmology, University of North Carolina, Chapel Hill, NC 27302, USA. Steven_Gray@med.unc.edu.
Papers in Europe PMC - 08Guo HC5 papers · 2019
Department of Biological Sciences, University of Massachusetts Lowell, 1 University Avenue, Lowell, MA 01854, USA. Electronic address: hwaichen_guo@uml.edu.
Papers in Europe PMC - 09Kaartinen V5 papers · 1998
Department of Clinical Chemistry, Kuopio University Central Hospital, Finland.
Papers in Europe PMC - 10Tokola A5 papers · 2026
HUS Medical Imaging Center, Helsinki, Finland. anna.tokola@hus.fi.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07530796·NOT YET RECRUITING·Safety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU)
Conditions: Aspartylglucosaminuria · Aspartylglucosamidase (AGA) Deficiency·Matched via name phrase
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Aspartylglucosaminuria" OR "Aspartylglucosaminidase deficiency" OR "Aspartylglycosaminuria" OR "glycosylasparaginase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aspartylglucosaminuria" OR "Aspartylglucosaminidase deficiency" OR "Aspartylglycosaminuria" OR "glycosylasparaginase deficiency" OR "AGA"
Recall-expansion terms: AGA
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: 4 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T12:23:34.956Z