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ORPHA:85443

AL amyloidosis

high confidenceDisorder

Also known as: Light-chain amyloidosis

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

19,619

97.6th percentile

Trials

138

Interventional, condition-specific

Researchers

1,320

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

primary 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.”

4/6 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

    19,619 matched papers (12,127 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Nephrotic syndrome; Increased circulating troponin I concentration; Increased circulating troponin T concentration) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA · 8 EMA designations (1 FDA orphan-indication approval) — e.g. N-(3,4-dihydroxyphenyl)-3,4-dihydroxybenzamide Source

  6. Interventional trialPresent

    138 matched on ClinicalTrials.gov (37 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

55

Associated phenotypes · MONDO:0019438

  • Nephrotic syndrome
  • Increased circulating troponin I concentration
  • Increased circulating troponin T concentration
  • Bruising susceptibility
  • Anemia

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

9

Designations · 1 with FDA orphan-indication approval

  • FDA N-(3,4-dihydroxyphenyl)-3,4-dihydroxybenzamideAL Amyloidosis · 2014-10-15 · Not FDA Approved for Orphan Indication
  • EMA daratumumab (Darzalex)Treatment of AL amyloidosis · 25/05/2018 · PositiveEMA designation
  • EMA florbetaben (18F)Diagnosis of AL amyloidosis · 22/04/2020 · PositiveEMA designation
  • EMA autologous CD3-positive T-cells expressing a chimeric antigen receptor against B cell maturation agentTreatment of AL amyloidosis · 19/02/2024 · PositiveEMA designation
  • EMA chimeric fibril-reactive IgG1k monoclonal antibody 11-1F4Treatment of AL amyloidosis · 13/11/2019 · PositiveEMA designation
  • EMA Iodine (124I) evuzamitideDiagnosis of AL amyloidosis · 11/11/2022 · PositiveEMA designation
  • EMA Humanised IgG1 monoclonal antibody against misfolded immunoglobulin G, fused with pan-amyloid-reactive peptide p5RTreatment of AL amyloidosis · PositiveEMA designation
  • EMA recombinant monoclonal antibody to human serum amyloid P component (dezamizumab)Treatment of AL amyloidosis · 29/07/2014 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

27

Drugs / clinical candidates · MONDO_0019438

CTD chemicals (MyDisease.info)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Melphalan · therapeutic

MyDisease.info · MONDO:0019438

Literature

Is anyone studying this?

19,619

19,619 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=3967) is 59.

19,619 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).

12,127 in the last 10 years · high confidence · 97.6th percentile (publications denominator)

Phrase hits: 18,256 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,320

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
    Sanchorawala V14 papers · 2026

    Amyloidosis Center, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.

    Papers in Europe PMC
  2. 02
    Dispenzieri A12 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  3. 03
    Lentzsch S9 papers · 2026

    Department of Hematology/Oncology, Columbia University Irving Medical Center, 161 Fort Washington Avenue, 6GN-435, New York, NY 10032, United States of America.

    Papers in Europe PMC
  4. 04
    Li J9 papers · 2026

    Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Muchtar E9 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA. muchtar.eli@mayo.edu.

    Papers in Europe PMC
  6. 06
    Chen J8 papers · 2026

    Capital University of Physical Education and Sports, Beijing, 100191, China.

    Papers in Europe PMC
  7. 07
    Gertz M8 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  8. 08
    Kumar S8 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN.

    Papers in Europe PMC
  9. 09
    Zhang Y8 papers · 2026

    Department of Diagnostic Radiology, Beijing You'an Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  10. 10
    Cook J7 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

138

interventional trials for this specific condition

138 interventional trials matched this specific condition name; 37 currently recruiting in our sample. 231 trials are registered for amyloidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

138 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.9th percentile).

high confidence · 98.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

138 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: amyloidosis

231

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

34 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

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 57 · after dedupe 56 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 56 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (56)

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 AL 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.

("AL amyloidosis" OR "Light-chain amyloidosis" OR "primary amyloidosis") OR (MESH:"[OBSOLETE] Primary amyloidosis") OR ("AL syndrome" OR "AL-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Primary amyloidosis

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

"AL amyloidosis" OR "Light-chain amyloidosis" OR "primary amyloidosis" OR "[OBSOLETE] Primary 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: 138 interventional · 34 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"amyloidosis"

Query health: suspect — strategies attempted: phrase, mesh; 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

Ingested 2026-07-27T03:02:49.635Z