ORPHA:85450
Hereditary amyloidosis with primary renal involvement
Also known as: Amyloidosis, Ostertag type · Familial amyloid nephropathy · Familial renal amyloidosis · Hereditary amyloid nephropathy · Hereditary renal amyloidosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
37,379
Trials
0
Interventional, condition-specific
Researchers
1,158
Distinct authors in sample
Gene link
APOA1, B2M, FGA
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007099
- MeSH:C538249
- OMIM:105200
- UMLS:C0268389
Additional Mondo synonyms (10)
German type amyloidosis · Ostertag type amyloidosis · amyloidosis, 3 or more types · amyloidosis, Ostertag type · amyloidosis, familial renal · amyloidosis, renal · familial amyloid nephropathy · familial renal amyloidosis · hereditary amyloid nephropathy · hereditary renal 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.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — APOA1, B2M, FGA, LYZ
- LiteraturePresent
37,379 matched papers (20,472 in last 10 years) Source
- Phenotype characterisedPresent
56 HPO annotations (e.g. Renal insufficiency; Nephrotic syndrome; Weight loss) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (APOA1, B2M, FGA…).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
56
Associated phenotypes · MONDO:0007099
- Renal insufficiency
- Nephrotic syndrome
- Weight loss
- Anemia
- Nausea
Showing 5 of 56 — 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)
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
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?
37,379
37,379 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.
37,379 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).
20,472 in the last 10 years · low confidence
Phrase hits: 376 · MeSH hits: 0
Who's working on it?
1,158
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Benson MD11 papers · 2020
Department of Medicine, Indiana University School of Medicine, Indianapolis.
Papers in Europe PMC - 02Liepnieks JJ8 papers · 2010Papers in Europe PMC
- 03Hawkins PN7 papers · 2019
National Amyloidosis Centre and Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, University College London, London, UK.
Papers in Europe PMC - 04Gillmore JD6 papers · 2019
National Amyloidosis Centre, CAAPP, Department of Medicine, Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, United Kingdom. j.gillmore@medsch.ucl.ac.uk
Papers in Europe PMC - 05Wang SX6 papers · 2025
Laboratory of Electron Microscopy, Pathological Center, Peking University First Hospital, Beijing, P.R. China.
Papers in Europe PMC - 06Yazaki M6 papers · 2018
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 975 West Walnut Street, 1B-503, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 07Gilbertson JA5 papers · 2019
National Amyloidosis Centre and Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, University College London, London, UK.
Papers in Europe PMC - 08Grateau G5 papers · 2009Papers in Europe PMC
- 09Liu D5 papers · 2024
Proteomics Laboratory, Medical and Healthy Analytical Center, Peking University Health Science Center, Beijing, PR China.
Papers in Europe PMC - 10Rowczenio D5 papers · 2019
National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, Royal Free Campus, University College London, London, England.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category hereditary amyloidosis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: hereditary amyloidosis
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 45 · after dedupe 43 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 43 · 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 (43)
- isrctn·ISRCTN49320109·Recruiting·A CAR T trial for amyloid light chain amyloidosis (AL Amyloid)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523616-36-00·Authorised·Exploratory study evaluating the relevance of [68Ga]Ga-FAPI-46 for staging and identifying progressing patients with transthyretin cardiac amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2026-525342-29-00·Cancelled·A Study to Establish the Bioequivalence of Free Acid Tafamidis 61 mg Capsule and Tablet, and Evaluate the Safety and Tolerability of the 61 mg Tablet in Healthy Adults Under Fed Conditions
skipped — LLM skipped (--skip-llm)
- ctis·2025-522544-40-00·Authorised, ongoing·TRITON-PN: A Phase 3, Global, Randomized, Open-Label Study to Evaluate the Efficacy and Safety of Nucresiran in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy (hATTR-PN)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521831-35-00·Authorised, recruiting·(23026) A prospective, single-arm, Phase 4 study to evaluate the course of serum transthyretin (TTR) level with acoramidis in adult patients with variant or wild-type transthyretin amyloidosis with cardiomyopathy (ATTR-CM) previously treated with tafamidis.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518899-31-00·Authorised, ongoing·CLEOPATTRA: Effects of NNC6019-0001 versus placebo on cardiovascular outcomes in participants with transthyretin amyloid cardiomyopathy (ATTR-CM).
skipped — LLM skipped (--skip-llm)
- ctis·2025-520790-39-00·Authorised, ongoing·CLonE-specific CAR T-Cell therapy in relapsed or refractory AL amyloidosis - a single-center Phase I trial (CLEAR AL)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513676-18-00·Authorised·A Phase 3, Open-Label, Multicenter, Extension Study of Acoramidis in Patients with Newly Diagnosed Variant Transthyretin Amyloid Cardiomyopathy (ACT-EARLY OLE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519917-72-00·Authorised, ongoing·TRITON-CM: A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Nucresiran in Patients with Transthyretin-Mediated Amyloidosis with Cardiomyopathy (ATTR amyloidosis with cardiomyopathy)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519372-22-00·Authorised, ongoing·A research study to look at the distribution and effects of coramitug on amyloid deposits in heart tissue using PET/CT imaging in people with ATTR amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-519107-10-00·Authorised·HeArt Rate and quality of Life in transthyrEtin cardiac amYloidosis (HARLEY)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519191-90-00·Expired·A Phase II Trial of Teclistamab in participants with previously treated Immunoglobulin Light-Chain (AL) Amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-519812-15-00·Authorised, ongoing·ETCABio - Evaluation of Skin Tests in Biotherapy Allergies
skipped — LLM skipped (--skip-llm)
- ctis·2024-518343-38-00·Expired·An Open-Label Extension Study to Assess the Safety and Efficacy of Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy (ATTR Amyloidosis with Cardiomyopathy)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517942-33-03·Authorised, ongoing·A multi-center phase 3 study of 18F-florbetaben positron emission tomography/computed tomography (PET-CT) to non-invasively diagnose cardiac AL amyloidosis: the PETAL study.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513547-82-00·Authorised, ongoing·A Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled Study of Acoramidis for Transthyretin Amyloidosis Prevention in the Young (ACT-EARLY Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518658-18-00·Expired·Phase II, Multicenter Study to Assess Safety and Efficacy
of Combination of Sargramostim with D-VCd Therapy
(Daratumumab, Cyclophosphamide, Bortezomib,
Dexamethasone) in Untreated Patients with Light
Chain Amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2023-508364-29-00·Cancelled·A Phase 3, Randomized, Double-blind, Placebo-controlled Multicenter Study to Evaluate the Efficacy and Safety of Patisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy (ATTR Amyloidosis with Cardiomyopathy)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517971-19-01·Cancelled·Prospective, monocentric, exploratory phase II study for the evaluation of the diagnostic use of the tracer PET (18F) -Flutemetamol (Vizamyl®) in patients with cardiac amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-513887-25-00·Cancelled·A phase 2, open label, multicenter, single-stage study to evaluate the efficacy of Isatuximab plus Pomalidomide and Dexamethasone (IPd), in patients with AL amyloidosis not in VGPR or better after any previous therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-518318-25-00·Expired·HELIOS-B: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy (ATTR Amyloidosis with Cardiomyopathy)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511066-36-00·Cancelled·A Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Birtamimab Plus Standard of Care vs. Placebo Plus Standard of Care in Mayo Stage IV Subjects with Light Chain (AL) Amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518708-29-00·Expired·MAGNETICAL - MAGNetic resonance Evaluation of Tafamidis Impact in Cardiac AmyLoidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-515661-34-00·Authorised, ongoing·Effect of pharmacological treatment with angiotensin receptor/neprilysin inhibitors on transthyretin cardiac amyloidosis and heart failure with reduced ejection fraction (SAVA-TTR trial)
skipped — LLM skipped (--skip-llm)
- ctis·2023-508118-40-01·Cancelled·A Phase 2 Proof-of-Concept clinical trial to quantify myocardial manganese uptake rate by cardiovascular magnetic resonance imaging following mangafodipir trisodium administration in healthy volunteers and heart failure patients with preserved ejection fraction caused by hypertrophic cardiomyopathy or cardiac amyloidosis.
skipped — LLM skipped (--skip-llm)
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 amyloidosis with primary renal involvement — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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 amyloidosis with primary renal involvement" OR "Amyloidosis, Ostertag type" OR "Familial amyloid nephropathy" OR "Familial renal amyloidosis" OR "Hereditary amyloid nephropathy" OR "Hereditary renal amyloidosis" OR "German type amyloidosis" OR "Ostertag type amyloidosis" OR "amyloidosis, 3 or more types" OR "amyloidosis, familial renal" OR "amyloidosis, renal") OR (MESH:"Amyloidosis, familial visceral") OR ("APOA1" OR "APOA1 syndrome" OR "APOA1-related" OR "B2M syndrome" OR "B2M-related" OR "FGA syndrome" OR "FGA-related")MeSH descriptor terms unioned into the query: Amyloidosis, familial visceral
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary amyloidosis with primary renal involvement" OR "Amyloidosis, Ostertag type" OR "Familial amyloid nephropathy" OR "Familial renal amyloidosis" OR "Hereditary amyloid nephropathy" OR "Hereditary renal amyloidosis" OR "German type amyloidosis" OR "Ostertag type amyloidosis" OR "amyloidosis, 3 or more types" OR "amyloidosis, familial renal" OR "amyloidosis, renal" OR "Amyloidosis, familial visceral"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary 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
- Publication count (37379) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:03:41.882Z