NCT01705626

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

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 500 (actual)
• Sponsor: CENTOGENE GmbH Rostock · Industry
• Sex: All
• Age: 18 Years – 85 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed 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.

Conditions

• Polyneuropathy, Amyloid
• Neuropathic Pain
• Cardiac Failure
• Orthostatic Hypotension
• Gastrointestinal Disorders

Timeline

• Start date: 2016-12-01
• Primary completion: 2022-05-27
• Completion: 2022-05-27
• First posted: 2012-10-12
• Last updated: 2022-06-06

Locations

11 sites across 6 countries: Austria, Hungary, North Macedonia, Poland, Serbia, Spain