RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:85445

AA amyloidosis

low confidenceDisorder

Also known as: Inflammatory amyloidosis · Reactive amyloidosis

Publications

6,566

Trials

5

Interventional, condition-specific

Researchers

1,292

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.

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 (3)

inflammatory amyloidosis · reactive amyloidosis · secondary amyloidosis

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    6,566 matched papers (2,958 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    5 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?

6,566

6,566 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

6,566 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).

2,958 in the last 10 years · low confidence

Phrase hits: 6,566 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,292

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
    Georgin-Lavialle S12 papers · 2026

    Sorbonne University, Department of internal medicine, National reference center for autoinflammatory diseases and AA amyloidosis, Tenon Hospital, DMU 3ID, 4 rue de la Chine, 75020, Paris, France. Electronic address: Sophie.georgin-lavialle@aphp.fr.

    Papers in Europe PMC
  2. 02
    Kobayashi N7 papers · 2026

    Laboratory of Veterinary Toxicology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Murakami T7 papers · 2026

    Laboratory of Veterinary Toxicology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo, Japan. mrkmt@cc.tuat.ac.jp.

    Papers in Europe PMC
  4. 04
    Hentgen V6 papers · 2026

    CEREMAIA (French reference center for auto-inflammatory diseases and inflammatory amyloidosis), RITA network member, Paris, France. vhentgen@ght78sud.fr.

    Papers in Europe PMC
  5. 05
    Savey L6 papers · 2026

    Sorbonne University, Department of internal medicine, National reference center for autoinflammatory diseases and AA amyloidosis, Tenon Hospital, DMU 3ID, 4 rue de la Chine, 75020, Paris, France.

    Papers in Europe PMC
  6. 06
    Boursier G5 papers · 2026

    Reference Center for Autoinflammatory Diseases and AA Amyloidosis (CEREMAIA), Paris, France; Department of Molecular Genetic and Cytogenomic, Rare and Autoinflammatory Diseases Genetics Unit, University Hospital of Montpellier, University of Montpellier, Montpellier, France.

    Papers in Europe PMC
  7. 07
    Itoh Y5 papers · 2026

    Smart-Core-Facility Promotion Organization, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Iwaide S5 papers · 2026

    Laboratory of Veterinary Toxicology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Bourguiba R4 papers · 2026

    Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France.

    Papers in Europe PMC
  10. 10
    Delplanque M4 papers · 2026

    Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting. 364 trials are registered for amyloidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 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: amyloidosis

364

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

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"AA amyloidosis" OR "Inflammatory amyloidosis" OR "Reactive amyloidosis" OR "secondary amyloidosis"

Run this search on Europe PMC

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

"AA amyloidosis" OR "Inflammatory amyloidosis" OR "Reactive amyloidosis" OR "secondary amyloidosis"

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: 5 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"amyloidosis"

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
  • Publication count (6566) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:03:07.564Z