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

Neuropathic Pain Clinical Trial

— TRAP2-1  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01705626
• Other study ID #: TRAP 08-2012
• Status: Completed
• Start date: December 2016
• Est. completion date: May 27, 2022

Study information

• Verified date: May 2022
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 500
• Est. completion date: May 27, 2022
• Est. primary completion date: May 27, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 85 Years

Eligibility

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

Related Conditions & MeSH terms

• Amyloid Neuropathies
• Cardiac Failure
• Digestive System Diseases
• Gastrointestinal Diseases
• Gastrointestinal Disorders
• Heart Failure
• Hypotension
• Hypotension, Orthostatic
• Neuralgia
• Neuropathic Pain
• Orthostatic Hypotension
• Polyneuropathies
• Polyneuropathy, Amyloid

Locations

Country	Name	City	State
Austria	Klinikum Wels-Grieskirchen GmbH, Abteilung für Neurologie	Wels
Hungary	University of Pécs, Department of Neurology	Pécs
Hungary	University of Szeged, Department of Neurology	Szeged
North Macedonia	University Hospital Skopje, Department of Neurology	Skopje
Poland	Jagiellonian University Medical College, Department of Neurology	Kraków
Serbia	Clinical Hospital Center Zvezdara, Department of Neurology	Belgrad
Serbia	University of Belgrade, Clinical Center of Serbia, Neurology Clinic, Neuropathy Center	Belgrade
Serbia	Clinical Center Niš, Department of Neurology	Niš
Serbia	General Hospital "Dr. Djordje Joanovic"	Zrenjanin
Spain	Hospital Infanta Leonor	Madrid
Spain	Hospital Universitario Donostia	San Sebastián

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

Austria,  Hungary,  North Macedonia,  Poland,  Serbia,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Epidemiological analysis of prevalence of the TTR FAP in participants with small fiber polyneuropathy of no obvious etiology.	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	3 years
Secondary	Establishment of a biomarker in TTR-positive cohort	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.	3 years

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