Familial Transthyretin Amyloidosis
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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?
Elite in Familial Transthyretin Amyloidosis
Elite in Familial Transthyretin Amyloidosis
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Johns Hopkins Bayview Medical Center

Baltimore, MD 
410-550-5624
Languages Spoken:
English
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Offers Telehealth

Dr. Michael Polydefkis focuses on neuromuscular diseases, particularly peripheral nerve diseases. He has a special interest in diabetic and HIV-associated peripheral neuropathy. His expertise includes nerve conduction studies, electromyography and nerve, skin and muscle biopsy reading. Dr. Michael Polydefkis received his medical degree from The Johns Hopkins University School of Medicine. He then became a Howard Hughes Medical Institute research fellow before returning to Johns Hopkins to complete an internship and residency in internal medicine, residency in neurology and a fellowship in neuromuscular diseases. Dr. Polydefkis is rated as an Elite provider by MediFind in the treatment of Familial Transthyretin Amyloidosis. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Transthyretin Amyloidosis, Familial Transthyretin Amyloidosis, Primary Amyloidosis, and Peripheral Neuropathy.

Elite in Familial Transthyretin Amyloidosis
Elite in Familial Transthyretin Amyloidosis
Referral may be required

Perelman Center For Advanced Medicine South Pavilion, 2nd Floor

3400 Civic Center Boulevard, 
Philadelphia, PA 
800-789-7366
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Chafic Karam is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Karam is rated as an Elite provider by MediFind in the treatment of Familial Transthyretin Amyloidosis. He is also highly rated in 55 other conditions, according to our data. His clinical expertise encompasses Chronic Inflammatory Demyelinating Polyneuropathy, Transthyretin Amyloidosis, Myasthenia Gravis, Tissue Biopsy, and Laminectomy. Dr. Karam is currently accepting new patients.

 
 
 
 
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Elite in Familial Transthyretin Amyloidosis
Elite in Familial Transthyretin Amyloidosis
Referral may be required

Dysautonomia Center LLP

530 1st Ave Ste 9Q, 
New York, NY 
212-263-7225
Languages Spoken:
English
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Offers Telehealth

Maria Gonzalez is a Neurologist practicing medicine in New York, New York. Dr. Gonzalez is rated as an Elite provider by MediFind in the treatment of Familial Transthyretin Amyloidosis. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Primary Amyloidosis, Familial Transthyretin Amyloidosis, Transthyretin Amyloidosis, and Familial Dysautonomia.

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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: April 16, 2026
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