Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP)

An International, multicenter, epidemiological observational study investigating the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in participants with small fiber polyneuropathy of no obvious etiology.

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Key information

Conditions

Polyneuropathy, Amyloid Amyloid Neuropathies Amyloid Neuropathies, Familial Amyloidosis Amyloidosis, Familial Autonomic Nervous System Diseases Cardiac Failure Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Gastrointestinal Diseases Gastrointestinal Disorders Genetic Diseases, Inborn Heart Diseases Heart Failure Heredodegenerative Disorders, Nervous System Hypotension Hypotension, Orthostatic Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neuralgia Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Diseases Neuropathic Pain Nutritional and Metabolic Diseases Orthostatic Hypotension Orthostatic Intolerance Pain Pathological Conditions, Signs and Symptoms Peripheral Nervous System Diseases Primary Dysautonomias Proteostasis Deficiencies Signs and Symptoms Vascular Diseases

Age range

18 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Klinikum Wels-Grieskirchen GmbH, Abteilung für Neurologie, Wels, Austria

About this study

Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant, progressive neurodegenerative disease, with fatal outcome occurring within ten years after onset. Familial amyloid polyneuropathy (FAP) associated with mutations in the transthyretin (TTR) gene is the most common form of genetic amyloidosis. It accounts several thousand cases worldwide, with Val30Met mutation identified in most patients and with endemic foci in Portugal, Sweden and Japan.

TTR FAP is caused by the systemic deposition of amyloidogenic variants of the transthyretin protein ((Ttr) in the extra-cellular space of tissues and result in disruption of organ function.The typical presentation of TTR-FAP is a progressive sensory-motor polyneuropathy, which usually begins with loss of thermal and pain sensation in the feet, slowly ascends up the limbs and is associated with variable autonomic disturbances and extra-neurological manifestations (especially a cardiomyopathy).

The goal of the TRAP2.1 Study is to investigate the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in a cohort of 500 subjects with small fiber polyneuropathy of no obvious etiology, based on the subject's clinical presentation.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Informed consent is obtained from the participant
The participant is aged between 18 and 85 years of age
The participant is diagnosed with small fiber polyneuropathy of no obvious etiology
The participant has no diagnosis of alcoholism, according to International Guidelines
The participant has not undergone chemotherapy for carcinoma

Exclusion criteria

Inability to provide informed consent
The participant is younger than 18 years or older than 85 years of age
The etiology of the small fiber polyneuropathy is clearly determined
The participant has a diagnosis of alcoholism, according to International Guidelines
The participant has undergone chemotherapy for carcinoma

Treatment and study plan

Primary outcomes

Epidemiological analysis of prevalence of the TTR FAP in participants with small fiber polyneuropathy of no obvious etiology.

Time frame: 3 years

Dry Blood Spot (DBS) samples will be genetically validated via combination of Next-Generation Sequencing (the mutation will be confirmed by Sanger sequencing) and the Multiplex ligation-dependent probe amplification (MLPA) of TTR gene

Secondary outcomes

Establishment of a biomarker in TTR-positive cohort

Time frame: 3 years

Samples carrying a mutation in the TTR gene will be biochemically analyzed via liquid chromatography multiple reaction monitoring MS and compared with a merged control cohort, in order to establish TTR mutation-specific biomarker/s.

Sponsors and collaborators

Lead sponsor

CENTOGENE GmbH Rostock

Industry

Registry information

Official study title

Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP): An International, Multicenter, Epidemiological Protocol

Acronym: TRAP2-1

Important dates

Study start: 2016
Primary completion: 2022
Study completion: 2022
First posted: Oct 12, 2012
Registry last updated: Jun 6, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed