Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP) (TRAP2-1)

CENTOGENE

Status: Completed

Conditions: Cardiac Failure; Neuropathic Pain; Gastrointestinal Disorders; Polyneuropathy, Amyloid; Orthostatic Hypotension

Study type: Observational

Funder types: Industry

Identifiers

NCT01705626

TRAP 08-2012

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 500 patients

Sex: All

Ages: 18 to 85 years old

Volunteers: No Healthy Volunteers

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

Trial design

500 participants in 1 patient group

Participants diagnosed with small fiber polyneuropathy no obvious etiology

Description:

Participants aged between 18 and 85 years, diagnosed with small fiber polyneuropathy of no obvious etiology, without diagnosis of alcoholism and not undergoing chemotherapy for cancer