RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:271861

Hereditary ATTR amyloidosis

high confidenceDisorder

Also known as: ATTRv amyloidosis · Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis · Hereditary TTR amyloid polyneuropathy · Hereditary TTR amyloidosis · Hereditary transthyretin amyloid polyneuropathy · hATTR

Publications

6,651

94.3th percentile

Trials

20

Interventional, condition-specific

Researchers

1,308

Distinct authors in sample

Gene link

TTR

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic systemic disease characterized by adult onset, sensorimotor and autonomic and infiltrative . Neurological involvement usually starts with sensory loss in the extremities and progresses with motor . presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

amyloid neuropathies, familial · familial TTR-related amyloidosis · familial amyloid neuropathy · familial amyloid polyneuropathy · familial transthyretin-related amyloidosis · hereditary TTR amyloid polyneuropathy · hereditary TTR amyloidosis · hereditary transthyretin amyloid polyneuropathy · paramyloidosis

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TTR

  2. LiteraturePresent

    6,651 matched papers (4,595 in last 10 years) Source

  3. Phenotype characterisedPresent

    176 HPO annotations (e.g. Impotence; Cardiomyopathy; Abnormal renal physiology) Source

  4. Animal modelPresent

    14 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. tafamidis Source

  6. Interventional trialPresent

    20 matched on ClinicalTrials.gov (4 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?

Yes — we know a specific gene responsible (TTR).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

176

Associated phenotypes · MONDO:0007100

  • Impotence
  • Cardiomyopathy
  • Abnormal renal physiology
  • Abnormal EKG
  • Restrictive cardiomyopathy

Showing 5 of 176 — open Monarch for the full list.

Animal models (Monarch / Alliance)

14

Model associations linked to this Mondo ID

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA tafamidisFamilial Amyloid Polyneuropathy · 2006-05-23 · Not FDA Approved for Orphan Indication
  • EMA Doxycycline hyclateTreatment of familial amyloid polyneuropathy · 02/04/2012 · PositiveEMA designation
  • EMA N-methyl D-(2,3,4,5,6-pentahydroxy-hexyl)-ammonium; 2-(3,5-dichloro-phenyl)-benzoxazole-6-carboxylate (tafamidis)Treatment of familial amyloid polyneuropathy · 28/08/2006 · ExpiredEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

15

Drugs / clinical candidates · MONDO_0007100

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,651

6,651 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.

6,651 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).

4,595 in the last 10 years · high confidence · 94.3th percentile (publications denominator)

Phrase hits: 6,448 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,308

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
    Sekijima Y15 papers · 2026

    Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Nagano, Japan.

    Papers in Europe PMC
  2. 02
    Ueda M15 papers · 2026

    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

    Papers in Europe PMC
  3. 03
    Adams D12 papers · 2026

    From the National Amyloidosis Centre, University College London, Royal Free Hospital (M.F., Y.R., J.D.G.), and Richmond Pharmacology (J.T.) - both in London; Brigham and Women's Hospital, Boston (S.D.S.), and Intellia Therapeutics, Cambridge (J.K., L.W., R.R., D.L., D.S., J.O., A.H., P.Z., Y.X., A.L., A.S.) - both in Massachusetts; the University of Auckland, Auckland, New Zealand (E.J.G.); Umea University, Umea, Sweden (B.P.); Centre Hospitalo-Universitaire de Bicêtre, Assistance Publique-Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France (D.A.); and Regeneron Pharmaceuticals, Tarrytown, NY (D.E.G.).

    Papers in Europe PMC
  4. 04
    Luigetti M11 papers · 2026

    Fondazione Policlinico A. Gemelli IRCCS. UOC Neurologia, 00168 Rome, Italy.

    Papers in Europe PMC
  5. 05
    Wixner J11 papers · 2026

    Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.

    Papers in Europe PMC
  6. 06
    Ando Y10 papers · 2026

    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

    Papers in Europe PMC
  7. 07
    Coelho T10 papers · 2026

    Unidade Corino de Andrade (UCA), Centro Hospitalar Universitário de Santo António (CHUdSA), Porto, Portugal.

    Papers in Europe PMC
  8. 08
    Gillmore JD10 papers · 2026

    National Amyloidosis Centre, University College London, Royal Free Hospital, London, UK.

    Papers in Europe PMC
  9. 09
    Conceição I9 papers · 2025

    Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria and Faculdade de Medicina, Lisbon, Portugal.

    Papers in Europe PMC
  10. 10
    Aldinc E8 papers · 2026

    Alnylam Pharmaceuticals, Cambridge, MA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

20 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 355 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 · last trial check 28 July 2026

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

high confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: amyloidosis

355

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

11 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 2026-07-30

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).

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 Hereditary 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.

("Hereditary ATTR amyloidosis" OR "ATTRv amyloidosis" OR "Familial TTR-related amyloidosis" OR "Familial transthyretin-related amyloidosis" OR "Hereditary TTR amyloid polyneuropathy" OR "Hereditary TTR amyloidosis" OR "Hereditary transthyretin amyloid polyneuropathy" OR "hATTR" OR "amyloid neuropathies, familial" OR "familial amyloid neuropathy" OR "familial amyloid polyneuropathy" OR "paramyloidosis") OR (MESH:"Amyloidosis, Hereditary, Transthyretin-Related") OR ("TTR syndrome" OR "TTR-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Amyloidosis, Hereditary, Transthyretin-Related

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

"Hereditary ATTR amyloidosis" OR "ATTRv amyloidosis" OR "Familial TTR-related amyloidosis" OR "Familial transthyretin-related amyloidosis" OR "Hereditary TTR amyloid polyneuropathy" OR "Hereditary TTR amyloidosis" OR "Hereditary transthyretin amyloid polyneuropathy" OR "hATTR" OR "amyloid neuropathies, familial" OR "familial amyloid neuropathy" OR "familial amyloid polyneuropathy" OR "paramyloidosis" OR "Amyloidosis, Hereditary, Transthyretin-Related"

Interventional trials matched via: both, phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 20 interventional · 11 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"amyloidosis"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-27T11:34:19.872Z