Familial Transthyretin Amyloidosis Overview

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Learn About Familial Transthyretin Amyloidosis

What is the definition of Familial Transthyretin Amyloidosis?
Familial transthyretin amyloidosis (FTA) is a rare inherited condition characterized by abnormal build-up of a protein called amyloid in the body's organs and tissues. Signs and symptoms depend on where the amyloid protein is building up. Amyloid build-up in the nerves of the peripheral nervous system causes a loss of sensation in the lower limbs, feet, and hands (peripheral neuropathy). Amyloid build-up can also affect the involuntary body functions, such as blood pressure, heart rate, and digestion. Other areas of the body that may be affected are the heart, kidneys, eyes, and gastrointestinal tract. FTA is caused by changes in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR genetic change will develop FTA. Diagnosis of FTA is suspected by signs and symptoms and confirmed by tissue biopsy and genetic testing.
What are the alternative names for Familial Transthyretin Amyloidosis?
  • Familial transthyretin amyloidosis
  • Amyloidosis Transthyretin related
  • Amyloidosis, hereditary, transthyretin-related
  • Familial amyloid polyneuropathy
  • Hereditary ATTR amyloidosis
  • TTR amyloid neuropathy
  • Transthyretin amyloid neuropathy
  • Transthyretin amyloid polyneuropathy
  • Transthyretin amyloidosis
Who are the top Familial Transthyretin Amyloidosis Local Doctors?
Mathew S. Maurer
Elite in Familial Transthyretin Amyloidosis
Dr. Mathew S. Maurer
Advanced Heart Failure and Transplant Cardiology | Cardiology
Elite in Familial Transthyretin Amyloidosis
Dr. Mathew S. Maurer
Advanced Heart Failure and Transplant Cardiology | Cardiology

Trustees Of Columbia University In The City Of New York

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Mathew Maurer is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in New York, New York. Dr. Maurer is rated as an Elite provider by MediFind in the treatment of Familial Transthyretin Amyloidosis. His top areas of expertise are Cardiac Amyloidosis, Primary Amyloidosis, Transthyretin Amyloid Cardiomyopathy, Heart Transplant, and Transcatheter Aortic Valve Replacement (TAVR).

Claudio Rapezzi
Elite in Familial Transthyretin Amyloidosis
Claudio Rapezzi
Elite in Familial Transthyretin Amyloidosis
Claudio Rapezzi
Ravenna, IT 

Claudio Rapezzi practices in Ravenna, Italy. Mr. Rapezzi is rated as an Elite expert by MediFind in the treatment of Familial Transthyretin Amyloidosis. His top areas of expertise are Cardiac Amyloidosis, Primary Amyloidosis, Cardiomyopathy, Heart Transplant, and Pacemaker Implantation.

 
 
 
 
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Marcia Cruz-Waddington
Elite in Familial Transthyretin Amyloidosis
Marcia Cruz-Waddington
Elite in Familial Transthyretin Amyloidosis
Marcia Cruz-Waddington
Rio De Janeiro, RJ, BR 

Marcia Cruz-Waddington practices in Rio De Janeiro, Brazil. Ms. Cruz-Waddington is rated as an Elite expert by MediFind in the treatment of Familial Transthyretin Amyloidosis. Her top areas of expertise are Transthyretin Amyloidosis, Familial Transthyretin Amyloidosis, Primary Amyloidosis, Thymectomy, and Tissue Biopsy.

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What are the latest Familial Transthyretin Amyloidosis Clinical Trials?
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)
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)
Enrollment Status: Recruiting
Publish Date: October 15, 2025
Intervention Type: Biological, Drug
Study Phase: Phase 3

Summary: This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.

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Long-Term Follow-Up of Subjects Treated With NTLA-2001
Long-Term Follow-Up of Subjects Treated With NTLA-2001
Enrollment Status: Recruiting
Publish Date: August 26, 2025

Summary: This is a follow-up study of subjects who received NTLA-2001 in a previous clinical trial as an observational evaluation of the long-term effects of the investigational therapy.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center