ORPHA:85448
AGel amyloidosis
Also known as: Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type · Gelsolin amyloidosis · Hereditary amyloidosis, Finnish type
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.
Is anyone studying this?
371
371 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=183) is 38.
371 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
152 in the last 10 years · medium confidence · 76.8th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 5 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 369 trials are registered for amyloidosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
369
trials for amyloidosis, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (GSN).
GenCC classification: Definitive.
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.
- 01Kiuru-Enari S26 papers · 2021
Department of Neurology , University of Helsinki, Helsinki University Central Hospital , Finland.
Papers in Europe PMC - 02de 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 - 03Atula S10 papers · 2026
b Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital , Helsinki , Finland.
Papers in Europe PMC - 04Diomede 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 - 05Bollati 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 - 06Gettemans 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 - 07Milani M7 papers · 2021
CNR Istituto di Biofisica, c/o Dipartimento di Bioscienze, Università degli Studi di Milano, 20133 Milano, Italy.
Papers in Europe PMC - 08Tanskanen M7 papers · 2019
Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland. maarit.tanskanen@helsinki.fi
Papers in Europe PMC - 09Theis JD7 papers · 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Papers in Europe PMC - 10Haltia M6 papers · 2013Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
369 interventional trials matched amyloidosis, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
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
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 below 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"
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" OR "GSN" OR "hereditary amyloidosis"
Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537459 OMIM:105120 UMLS:C1622345
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (371) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium