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ORPHA:330001

Wild type ATTR amyloidosis

medium confidenceDisorder

Also known as: ATTRwt amyloidosis · ATTRwt-related amyloidosis · Senile systemic amyloidosis · Wild type ATTR-related amyloidosis

Publications

1,257

86.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,248

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).

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 (2)

SSA · wild type ATTR-related 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

    1,257 matched papers (730 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Congestive heart failure; Hypertrophic cardiomyopathy; Myocardial infarction) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. tafamidis Source

  6. Interventional trialPresent

    1 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)

32

Associated phenotypes · MONDO:0018018

  • Congestive heart failure
  • Hypertrophic cardiomyopathy
  • Myocardial infarction
  • Abnormal EKG
  • Abnormal pulmonary interstitial morphology

Showing 5 of 32 — 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 2026-07-27

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA tafamidis (Vyndaqel)Treatment of senile systemic amyloidosis · 08/11/2012 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

1,257

1,257 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,257 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).

730 in the last 10 years · medium confidence · 86.1th percentile (publications denominator)

Phrase hits: 1,257 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,248

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
    Maurer MS14 papers · 2026

    Cardiac Amyloidosis Program, Division of Cardiology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.

    Papers in Europe PMC
  2. 02
    Ueda M12 papers · 2026

    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-0811, Japan.

    Papers in Europe PMC
  3. 03
    Grogan M9 papers · 2026

    From Columbia University Irving Medical Center (M.S.M.) and Grossman School of Medicine, NYU Langone (A.G.-D.) - both in New York; the Center for Advanced Heart and Lung Disease, Baylor University Medical Center (P.K., R.L.G.), Baylor Scott & White Research Institute, and Texas A&M Health Science Center, Dallas (R.L.G.), and TCU School of Medicine, Fort Worth (R.L.G.) - all in Texas; the National Amyloidosis Centre, UCL, Division of Medicine, Royal Free Hospital, London (M.F., J.D.G.); Boston University School of Medicine (J.L.B.), the Cardiovascular Division, Brigham and Women's Hospital (S.D.S., M.D.C.), and the Division of Nuclear Medicine and Molecular Imaging, Brigham and Women's Hospital, Harvard Medical School (M.D.C.), Boston, and Alnylam Pharmaceuticals, Cambridge (P.B., M.T.W., J.C., E.Y., M.T.S., P.Y.J., P.P.G., J.V.) - all in Massachusetts; the Department of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, MN (M.G.); the Department of Cardiology, Rigshospitalet, University of Copenhagen, Copenhagen (F.G.), and the Department of Cardiology, Aarhus University Hospital, Aarhus (S.H.P.) - both in Denmark; the Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville (R.R.H.); the Cardiology Department and French National Reference Center for Cardiac Amyloidosis, GRC Amyloid Research Institute and Clinical Investigation Centre 1430 at Hôpitaux Universitaires Henri-Mondor Assistance Publique-Hôpitaux de Paris, and IMRB, INSERM, Université Paris Est Creteil, Creteil (T.D.), and INSERM, LTSI UMR 1099, Centre Hospitalier Universitaire de Rennes, Rennes (E.D.) - both in France; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City (A.G.-D.); the Department of Medicine, University of Chicago, Chicago (N.S.); the Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto (Y.S.), the Division of Cardiovascular Medicine, Department of Medicine, Kurume University School of Medicine, Kurume (N.T.), and the Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto (K.T.) - all in Japan; Westmead Amyloidosis Service, Westmead Hospital, Sydney (M.S.T.); the Department of Cardiology, Institute for Clinical and Experimental Medicine (M.K.), and the 2nd Department of Medicine, Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague (T.P.) - both in Prague, Czech Republic; the Heart Vascular and Thoracic Institute, Cleveland Clinic, Cleveland (W.H.W.T.); Taipei Veterans General Hospital and National Yang Ming Chiao Tung University, Taipei, Taiwan (W.-C.Y.); Amyloidosis Research & Treatment Center, Fondazione IRCCS Policlinico San Matteo di Pavia, Pavia (L.O.), the Department of Medical and Surgical Sciences, University of Bologna, and the Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna (I.D.), and the Department of Clinical and Experimental Medicine, Careggi University Hospital, Florence (F.P.) - all in Italy; and Unidade de Pesquisa Clínica-UPC, Hospital Das Clinicas da Faculdade de Medicina de Ribeirão Preto-USP (M.S.), and Instituto do Coração-HCFMUSP (F.F.) - both in São Paulo.

    Papers in Europe PMC
  4. 04
    Amass L8 papers · 2025

    Pfizer Inc, New York, NY, USA.

    Papers in Europe PMC
  5. 05
    Kristen AV8 papers · 2026

    Department of Cardiology, Angiology, Respiratory Medicine, Medical University of Heidelberg, Heidelberg, Germany.

    Papers in Europe PMC
  6. 06
    Garcia-Pavia P7 papers · 2024

    Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Sekijima Y7 papers · 2025

    a Department of Medicine (Neurology and Rheumatology) .

    Papers in Europe PMC
  8. 08
    Chapman D6 papers · 2024

    Pfizer Inc, New York, NY, USA.

    Papers in Europe PMC
  9. 09
    Dispenzieri A6 papers · 2024

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

    Papers in Europe PMC
  10. 10
    Fontana M6 papers · 2026

    National Amyloidosis Centre, University College London, Royal Free Hospital, London, United Kingdom.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 368 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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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

368

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

4 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 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 Wild type ATTR 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.

"Wild type ATTR amyloidosis" OR "ATTRwt amyloidosis" OR "ATTRwt-related amyloidosis" OR "Senile systemic amyloidosis" OR "Wild type ATTR-related amyloidosis"

Run this search on Europe PMC

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

"Wild type ATTR amyloidosis" OR "ATTRwt amyloidosis" OR "ATTRwt-related amyloidosis" OR "Senile systemic amyloidosis" OR "Wild type ATTR-related 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: 1 interventional · 4 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

Synonyms dropped by stoplist: SSA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T01:37:32.083Z