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ORPHA:85448

AGel amyloidosis

medium confidenceDisorder

Also known as: Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type · Gelsolin amyloidosis · Hereditary amyloidosis, Finnish type

Publications

382

64.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,030

Distinct authors in sample

Gene link

GSN

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice , cranial , especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral and renal failure.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

amyloidosis, MERETOJA type · familial amyloid polyneuropathy type IV · familial amyloidosis, Finnish type · gelsolin amyloidosis · hereditary amyloidosis, Finnish type · meretoja syndrome

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — GSN

  2. LiteraturePresent

    382 matched papers (160 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Dry skin; Bilateral ptosis; Hearing impairment) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 375 for broader category amyloidosis

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 (GSN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

61

Associated phenotypes · MONDO:0007097

  • Dry skin
  • Bilateral ptosis
  • Hearing impairment
  • Distal peripheral sensory neuropathy
  • Reduced visual acuity

Showing 5 of 61 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

382

382 papers have ever been published on this condition (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=3967) is 59.

382 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).

160 in the last 10 years · medium confidence · 64.5th percentile (publications denominator)

Phrase hits: 371 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,030

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Kiuru-Enari S26 papers · 2021

    Department of Neurology , University of Helsinki, Helsinki University Central Hospital , Finland.

    Papers in Europe PMC
  2. 02
    de Rosa M11 papers · 2026

    CNR Istituto di Biofisica, c/o Dipartimento di Bioscienze, Università degli Studi di Milano, 20133 Milano, Italy.

    Papers in Europe PMC
  3. 03
    Atula S10 papers · 2026

    b Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital , Helsinki , Finland.

    Papers in Europe PMC
  4. 04
    Diomede L8 papers · 2026

    Department of Molecular Biochemistry and Pharmacology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156 Milan, Italy.

    Papers in Europe PMC
  5. 05
    Bollati M7 papers · 2026

    Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Via Celoria 26, 20133, Milano, Italy; Dipartimento di Bioscienze, Università degli Studi di Milano, Via Celoria 26, 20133, Milano, Italy.

    Papers in Europe PMC
  6. 06
    Gettemans J7 papers · 2019

    Department of Biochemistry, Faculty of Medicine and Health Sciences, jan.gettemans@ugent.be rrobinson@imcb.a-star.edu.sg.

    Papers in Europe PMC
  7. 07
    Milani M7 papers · 2021

    CNR Istituto di Biofisica, c/o Dipartimento di Bioscienze, Università degli Studi di Milano, 20133 Milano, Italy.

    Papers in Europe PMC
  8. 08
    Tanskanen M7 papers · 2019

    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland. maarit.tanskanen@helsinki.fi

    Papers in Europe PMC
  9. 09
    Theis JD7 papers · 2025

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  10. 10
    Haltia M6 papers · 2013
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 375 trials are registered for amyloidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

375 interventional trials matched amyloidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: amyloidosis

375

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

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 2026-07-27

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 AGel amyloidosis — 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.

("AGel amyloidosis" OR "Familial amyloid polyneuropathy type IV" OR "Familial amyloidosis, Finnish type" OR "Gelsolin amyloidosis" OR "Hereditary amyloidosis, Finnish type" OR "amyloidosis, MERETOJA type" OR "meretoja syndrome") OR (MESH:"Meretoja syndrome") OR ("GSN syndrome" OR "GSN-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Meretoja syndrome

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

"AGel amyloidosis" OR "Familial amyloid polyneuropathy type IV" OR "Familial amyloidosis, Finnish type" OR "Gelsolin amyloidosis" OR "Hereditary amyloidosis, Finnish type" OR "amyloidosis, MERETOJA type" OR "meretoja syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"amyloidosis"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (382) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T01:35:45.560Z