Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP) (TRAP2-1)
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ClinicalTrials.gov Identifier: NCT01705626 |
Recruitment Status :
Recruiting
First Posted : October 12, 2012
Last Update Posted : April 9, 2021
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Condition or disease |
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Polyneuropathy, Amyloid Neuropathic Pain Cardiac Failure Orthostatic Hypotension Gastrointestinal Disorders |
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.
Study Type : | Observational |
Estimated Enrollment : | 500 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP): An International, Multicenter, Epidemiological Protocol |
Study Start Date : | December 2016 |
Estimated Primary Completion Date : | December 31, 2021 |
Estimated Study Completion Date : | December 31, 2021 |

Group/Cohort |
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Participants diagnosed with small fiber polyneuropathy
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
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- Epidemiological analysis of prevalence of the TTR FAP in participants with small fiber polyneuropathy of no obvious etiology. [ Time Frame: 3 years ]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
- Establishment of a biomarker in TTR-positive cohort [ Time Frame: 3 years ]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.
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | 18 Years to 85 Years (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01705626
Contact: Snezana Skobalj, MD | +49 (0)38180113591 | Snezana.Skobalj@centogene.com |
Austria | |
Klinikum Wels-Grieskirchen GmbH, Abteilung für Neurologie | Recruiting |
Wels, Austria, 4600 | |
Contact: Raffi Topakian, MD +43 (0)7242415 ext 2686 Raffi.Topakian@klinikum-wegr.at | |
Principal Investigator: Raffi Topakian, MD | |
Hungary | |
University of Pécs, Department of Neurology | Recruiting |
Pécs, Hungary, 7624 | |
Contact: Endre Pal, MD +36 (0)72535900 pal.endre@pte.hu | |
Principal Investigator: Endre Pal, Prof.Dr. | |
University of Szeged, Department of Neurology | Recruiting |
Szeged, Hungary, 6725 | |
Contact: Laszlo Vescei, MD +36 (0)62545351 vecsei.laszlo@med.u-szeged.hu | |
Principal Investigator: Laszlo Vescei, Prof.Dr. | |
North Macedonia | |
University Hospital Skopje, Department of Neurology | Recruiting |
Skopje, North Macedonia, 1000 | |
Contact: Nikolina Tanovska, Dr.sci.med. +389 (0)23111904 ntanovska@gmail.com | |
Contact: Ivan Barbov, Dr. dr_barbov@yahoo.com | |
Principal Investigator: Nikolina Tanovska, Dr.sci.med. | |
Poland | |
Jagiellonian University Medical College, Department of Neurology | Recruiting |
Kraków, Poland, 31-503 | |
Contact: Tomasz Dziedzic, Prof.Dr. +48 (0)124248600 dziedzic@cm-uj.krakow.pl | |
Principal Investigator: Tomasz Dziedzic, Prof.Dr. | |
Serbia | |
University of Belgrade, Clinical Center of Serbia, Neurology Clinic, Neuropathy Center | Recruiting |
Belgrade, Serbia, 11000 | |
Contact: Zorica Stević, Prof. Dr. + 381 (0)668301257 zstevic05@gmail.com | |
Principal Investigator: Zorica Stević, Prof.Dr. | |
Clinical Hospital Center Zvezdara, Department of Neurology | Recruiting |
Belgrad, Serbia, 11000 | |
Contact: Svetlana Kostić-Dedić, Prim. Dr. +381 (0)113810702 svetlana.kostic.dedic@gmail.com | |
Contact: Sanja Jevdjić, Dr. sanja.jevdjic@gmail.com | |
Principal Investigator: Svetlana Kostić-Dedić, Prim.Dr. | |
Clinical Center Niš, Department of Neurology | Recruiting |
Niš, Serbia, 18000 | |
Contact: Gordana Djordjević, Prof. Dr. +381 (0)18506906 gordanadjor@gmail.com | |
Principal Investigator: Gordana Djordjević, Prof. Dr. | |
General Hospital "Dr. Djordje Joanović" | Recruiting |
Zrenjanin, Serbia, 23000 | |
Contact: Igor Damjan, MD +381 (0)23513306 dr.igor.damjan@gmail.com | |
Contact: Svetlana Milićević-Kuručki, MD svetlanamilicevic@yahoo.com | |
Principal Investigator: Igor Damjan, MD | |
Spain | |
Hospital Infanta Leonor | Recruiting |
Madrid, Spain, 28031 | |
Contact: Raquel Cuenca Hernandez, MD +34 (0)911918105 raquel.cuenca@salud.madrid.org | |
Contact: Eva Martinez Acebes eva.martineza@salud.madrid.org | |
Principal Investigator: Raquel Cuenca Hernandez, MD | |
Hospital Universitario Donostia | Recruiting |
San Sebastián, Spain, 20700 | |
Contact: Juan Jose Poza Aldea, MD +34 (0)943007539 rafaelj.esteban@gmail.com | |
Principal Investigator: Juan Jose Poza Aldea, MD |
Study Chair: | Peter Bauer, Prof. | Centogene GmgH |
Responsible Party: | CENTOGENE GmbH Rostock |
ClinicalTrials.gov Identifier: | NCT01705626 |
Other Study ID Numbers: |
TRAP 08-2012 |
First Posted: | October 12, 2012 Key Record Dates |
Last Update Posted: | April 9, 2021 |
Last Verified: | March 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy TTR FAP Biomarker |
Digestive System Diseases Gastrointestinal Diseases Neuralgia Polyneuropathies Hypotension, Orthostatic Amyloid Neuropathies Hypotension Heart Failure Peripheral Nervous System Diseases Neuromuscular Diseases Nervous System Diseases |
Pain Neurologic Manifestations Vascular Diseases Cardiovascular Diseases Amyloidosis Proteostasis Deficiencies Metabolic Diseases Orthostatic Intolerance Primary Dysautonomias Autonomic Nervous System Diseases Heart Diseases |