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ORPHA:93

Aspartylglucosaminuria

medium confidenceDisorder

Also known as: Aspartylglucosaminidase deficiency

Publications

685

72.4th percentile

Trials

4

Interventional, condition-specific

Researchers

1,031

Distinct authors in sample

Gene link

AGA

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

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

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — AGA

  2. LiteraturePresent

    685 matched papers (258 in last 10 years) Source

  3. Phenotype characterisedPresent

    89 HPO annotations (e.g. Scoliosis; Short nose; Abnormal cortical bone morphology) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. adeno-associated viral vector serotype 9 encoding a codon-optimised human aspartylglucosaminidase transgene Source

  6. 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)

89

Associated phenotypes · MONDO:0008830

  • Scoliosis
  • Short nose
  • Abnormal cortical bone morphology
  • Anterior beaking of lumbar vertebrae
  • Chronic otitis media

Showing 5 of 89 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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 adeno-associated viral vector serotype 9 encoding a codon-optimised human aspartylglucosaminidase transgeneTreatment of aspartylglucosaminuria · 19/10/2020 · WithdrawnEMA designation
  • EMA recombinant human aspartylglucosaminidaseTreatment of aspartylglucosaminuria · 15/01/2015 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

685

685 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=3967) is 59.

685 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).

258 in the last 10 years · medium confidence · 72.4th percentile (publications denominator)

Phrase hits: 619 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,031

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
    Tikkanen 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
  2. 02
    Mononen I11 papers · 2016

    Department of Clinical Chemistry, Kuopio University Central Hospital, Finland.

    Papers in Europe PMC
  3. 03
    Banning 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
  4. 04
    Laine M9 papers · 2026

    Department of Pediatric Neurology, Helsinki University Hospital and University of Helsinki, 00029 Helsinki, Finland.

    Papers in Europe PMC
  5. 05
    Autti T7 papers · 2026

    Helsinki Medical Imaging Center, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  6. 06
    Gray 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
  7. 07
    Kaartinen V5 papers · 1998

    Department of Clinical Chemistry, Kuopio University Central Hospital, Finland.

    Papers in Europe PMC
  8. 08
    Tokola A5 papers · 2026

    HUS Medical Imaging Center, Helsinki, Finland. anna.tokola@hus.fi.

    Papers in Europe PMC
  9. 09
    Chen X4 papers · 2021

    Department of Pediatrics, Chinese People's Liberation Army General Hospital, Beijing 100853, China.

    Papers in Europe PMC
  10. 10
    Goodspeed K4 papers · 2022

    University of Texas Southwestern Medical Center Dallas Texas.

    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 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Aspartylglucosaminuria — check Associations / patient organisations on that page.

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.

("Aspartylglucosaminuria" OR "Aspartylglucosaminidase deficiency" OR "Aspartylglycosaminuria" OR "glycosylasparaginase deficiency") OR ("AGA syndrome" OR "AGA-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Aspartylglucosaminuria" OR "Aspartylglucosaminidase deficiency" OR "Aspartylglycosaminuria" OR "glycosylasparaginase deficiency"

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: 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

Ingested 2026-07-26T12:23:34.956Z