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Disease

Amyloid Neuropathies, Familial

Late-stage therapeutic developmentEmerging researchRising momentum
MeSHAmyloid Neuropathies, Familial
4
Publications
3
Clinical trials
2
Related conditions
1
Related proteins
2025
Latest publication
Current focus
Prealbumin biologyTherapeutic developmentGenetics & risk factors
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 1 clinical trial expected to report results, the earliest in Q3 2027.
Upcoming Milestones
Clinical Milestones1View
Results expected 1
Activity timeline1

Clinical trials

2 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
3
All trials
1
Active
3
Late-stage
2
Completed
Late-stage studies

MAGNITUDE-2: A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of NTLA-2001 in Participants With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN)

Phase 3 · Recruiting · Intellia Therapeutics

APOLLO: A Phase 3 Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Patisiran (ALN-TTR02) in Transthyretin (TTR)-Mediated Polyneuropathy (Familial Amyloidotic Polyneuropathy-FAP)

Phase 3 · Completed · Alnylam Pharmaceuticals

A Phase 3 Multicenter, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ALN TTRSC in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)

Phase 3 · Completed · Alnylam Pharmaceuticals

Research activity

4 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20212025
Most influential

CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.

The New England journal of medicine · 2021 · 1,256 cites

Sex differences in transthyretin cardiac amyloidosis.

Heart failure reviews · 2024 · 33 cites

Myocardial perfusion in cardiac amyloidosis.

European journal of heart failure · 2024 · 32 cites

Clinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.

JAMA cardiology · 2025 · 23 cites
Recent publications

Clinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.

JAMA cardiology · 2025 · 23 cites

Sex differences in transthyretin cardiac amyloidosis.

Heart failure reviews · 2024 · 33 cites

Myocardial perfusion in cardiac amyloidosis.

European journal of heart failure · 2024 · 32 cites

CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.

The New England journal of medicine · 2021 · 1,256 cites
Major themes7
  • Cardiomyopathies3
  • Amyloid Neuropathies, Familial2
  • Amyloidosis2
  • Coronary Circulation1
  • CRISPR-Cas Systems1
  • Gene Editing1
  • Myocardium1
Leading journals4
  • European journal of heart failure1
  • Heart failure reviews1
  • JAMA cardiology1
  • The New England journal of medicine1
Leading researchers8
  • Fontana M3
  • Aimo A2
  • Emdin M2
  • Gillmore JD2
  • Ioannou A2
  • Martinez-Naharro A2
  • Porcari A2
  • Razvi Y2
Affiliations (unnormalised)6
  • National Amyloidosis Centre2
  • Alma Mater Studiorum University of Bologna1
  • Barts Heart Centre1
  • Brigham and Women's Hospital1
  • Cardiologic Centre1
  • Careggi University Hospital1

Disease biology

1 match

Key proteins & gene products studied in this disease. Number shows shared papers.

Prealbumin2

Related conditions

2 matches

Diseases frequently studied alongside this one. Number shows shared papers.

Cardiomyopathies3Amyloidosis2

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.

Identifiers
MeSHAmyloid Neuropathies, Familial
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.