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

NCT01705626 | Completed DMC

• 1 other identifier: TRAP 08-2012
• Study Type: observational
• Target: 500
• Locations: 6 countries
• Sites: 11

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.

Conditions

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

Keywords

Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy; TTR FAP; Biomarker

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Establishment of a biomarker in TTR-positive cohort

  3 years

Study Arms (1)

Participants diagnosed with small fiber polyneuropathy no obvious etiology

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

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Participants diagnosed with small fiber polyneuropathy of no obvious etiology.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (11)

Klinikum Wels-Grieskirchen GmbH, Abteilung für Neurologie

Wels, 4600, Austria

Location

University of Pécs, Department of Neurology

Pécs, 7624, Hungary

Location

University of Szeged, Department of Neurology

Szeged, 6725, Hungary

Location

University Hospital Skopje, Department of Neurology

Skopje, 1000, North Macedonia

Location

Jagiellonian University Medical College, Department of Neurology

Krakow, 31-503, Poland

Location

Clinical Hospital Center Zvezdara, Department of Neurology

Belgrade, 11000, Serbia

Location

University of Belgrade, Clinical Center of Serbia, Neurology Clinic, Neuropathy Center

Belgrade, 11000, Serbia

Location

Clinical Center Niš, Department of Neurology

Niš, 18000, Serbia

Location

General Hospital "Dr. Djordje Joanović"

Zrenjanin, 23000, Serbia

Location

Hospital Infanta Leonor

Madrid, 28031, Spain

Location

Hospital Universitario Donostia

San Sebastián, 20700, Spain

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Amyloid Neuropathies; Neuralgia; Heart Failure; Hypotension, Orthostatic; Gastrointestinal Diseases; Amyloid Neuropathies, Familial

Condition Hierarchy (Ancestors)

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

Study Officials

• Peter Bauer, Prof.

  Centogene GmgH

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 9, 2012
• First Posted: October 12, 2012
• Study Start: December 1, 2016
• Primary Completion: May 27, 2022
• Study Completion: May 27, 2022
• Last Updated: June 6, 2022

Record last verified: 2022-05

Locations

SE (4); NO (1); AU (1); HU (2); PL (1); ES (2)