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ORPHA:314701

Primary systemic amyloidosis

high confidenceSubtype of disorder

Also known as: Systemic AL amyloidosis

Publications

8,867

93.9th percentile

Trials

56

Interventional, condition-specific

Researchers

1,141

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

systemic AL amyloidosis · systemic Immunoglobulin Light chain amyloidosis · systemic 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

    8,867 matched papers (4,258 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    56 matched on ClinicalTrials.gov (7 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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)

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

21

Drugs / clinical candidates · MONDO_0017816

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,867

8,867 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.

8,867 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).

4,258 in the last 10 years · high confidence · 93.9th percentile (publications denominator)

Phrase hits: 8,867 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,141

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
    Cuddy SAM4 papers · 2026

    Cardiac Amyloidosis Program, Brigham and Women's Hospital, Boston, MA, USA.

    Papers in Europe PMC
  2. 02
    Dispenzieri A4 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA. Electronic address: dispenzieri.angela@mayo.edu.

    Papers in Europe PMC
  3. 03
    Dorbala S4 papers · 2026

    Department of Medicine and Radiology, CV Imaging Program, Cardiovascular Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  4. 04
    Hegenbart U4 papers · 2026

    Medizinische Klinik V: Hämatologie, Onkologie und Rheumatologie, Universitätsklinikum Heidelberg, Heidelberg, Deutschland. ute.hegenbart@med.uni-heidelberg.de.

    Papers in Europe PMC
  5. 05
    Khouri J4 papers · 2026

    Department of Hematology and Medical Oncology, Cleveland Clinic Taussig Cancer Institute, Cleveland, Ohio, USA.

    Papers in Europe PMC
  6. 06
    Maurer MS4 papers · 2026

    Columbia University, New York, NY, USA.

    Papers in Europe PMC
  7. 07
    Raza S4 papers · 2026

    Department of Hematology and Medical Oncology, Cleveland Clinic Taussig Cancer Institute, Cleveland, Ohio, USA.

    Papers in Europe PMC
  8. 08
    Sanchorawala V4 papers · 2026

    Amyloidosis Center, Boston University Chobanian & Avedisian School of Medicine and Boston Medical Center, Boston, MA, USA.

    Papers in Europe PMC
  9. 09
    Aus dem Siepen F3 papers · 2026

    Amyloidose-Zentrum, Universitätsklinikum Heidelberg, Heidelberg, Deutschland.

    Papers in Europe PMC
  10. 10
    Bianchi G3 papers · 2026

    Amyloidosis Program, Brigham and Women's Hospital, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

56

interventional trials for this specific condition

56 interventional trials matched this specific condition name; 7 currently recruiting in our sample. 313 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

56 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.4th percentile).

high confidence · 97.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: amyloidosis

313

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

13 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 22 · after dedupe 22 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · 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 (22)

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 Primary systemic 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.

"Primary systemic amyloidosis" OR "Systemic AL amyloidosis" OR "systemic Immunoglobulin Light chain amyloidosis" OR "systemic amyloidosis"

Run this search on Europe PMC

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

"Primary systemic amyloidosis" OR "Systemic AL amyloidosis" OR "systemic Immunoglobulin Light chain amyloidosis" OR "systemic 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: 56 interventional · 13 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

Ingested 2026-07-27T13:12:39.259Z