Clinical trial NCT01705626: Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP)
Official title: Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP): An International, Multicenter, Epidemiological Protocol
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Polyneuropathy, Amyloid
Neuropathic Pain
Cardiac Failure
Orthostatic Hypotension
Gastrointestinal Disorders
Keywords: Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
TTR FAP
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2012-10-12
Enrollment: 500
Sex: ALL
Minimum age (years): 18
Maximum age (years): 85
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants diagnosed with small fiber polyneuropathy of no obvious etiology.

Brief 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.

Eligibility criteria: 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

Primary outcomes:
measure: Epidemiological analysis of prevalence of the TTR FAP in participants with small fiber polyneuropathy of no obvious etiology.
timeFrame: 3 years
Secondary outcomes:
measure: Establishment of a biomarker in TTR-positive cohort
timeFrame: 3 years
Other outcomes:
Locations:
city: Wels
country: Austria
facility: Klinikum Wels-Grieskirchen GmbH, Abteilung für Neurologie
city: Pécs
country: Hungary
facility: University of Pécs, Department of Neurology
city: Szeged
country: Hungary
facility: University of Szeged, Department of Neurology
city: Skopje
country: North Macedonia
facility: University Hospital Skopje, Department of Neurology
city: Kraków
country: Poland
facility: Jagiellonian University Medical College, Department of Neurology
city: Belgrade
country: Serbia
facility: University of Belgrade, Clinical Center of Serbia, Neurology Clinic, Neuropathy Center
city: Belgrad
country: Serbia
facility: Clinical Hospital Center Zvezdara, Department of Neurology
city: Niš
country: Serbia
facility: Clinical Center Niš, Department of Neurology
city: Zrenjanin
country: Serbia
facility: General Hospital "Dr. Djordje Joanović"
city: Madrid
country: Spain
facility: Hospital Infanta Leonor
city: San Sebastián
country: Spain
facility: Hospital Universitario Donostia
Study officials:
affiliation: Centogene GmgH
name: Peter Bauer, Prof.
role: STUDY_CHAIR
References: