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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
Sponsor:
Information provided by (Responsible Party):
CENTOGENE GmbH Rostock

Study Description
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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.

Condition or disease
Polyneuropathy, Amyloid Neuropathic Pain Cardiac Failure Orthostatic Hypotension Gastrointestinal Disorders

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.

Study Design
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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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
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


Outcome Measures
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Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. 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
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

Eligibility Criteria
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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
Study Population
Participants diagnosed with small fiber polyneuropathy of no obvious etiology.
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
Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Snezana Skobalj, MD +49 (0)38180113591 Snezana.Skobalj@centogene.com

Locations
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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         
Sponsors and Collaborators
CENTOGENE GmbH Rostock
Investigators
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Study Chair: Peter Bauer, Prof. Centogene GmgH
More Information
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Additional Information:

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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

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by CENTOGENE GmbH Rostock:
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
TTR FAP
Biomarker
Additional relevant MeSH terms:
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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