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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 : June 29, 2020
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Tracking Information
First Submitted Date October 9, 2012
First Posted Date October 12, 2012
Last Update Posted Date June 29, 2020
Study Start Date December 2016
Estimated Primary Completion Date December 31, 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 17, 2020)
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
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures
 (submitted: April 17, 2020)
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.
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title 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
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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)
Sampling Method Probability Sample
Study Population Participants diagnosed with small fiber polyneuropathy of no obvious etiology.
Condition
  • Polyneuropathy, Amyloid
  • Neuropathic Pain
  • Cardiac Failure
  • Orthostatic Hypotension
  • Gastrointestinal Disorders
Intervention Not Provided
Study Groups/Cohorts 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
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: October 11, 2012)
500
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 31, 2020
Estimated Primary Completion Date December 31, 2020   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years to 85 Years   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Volha Skrahina, PhD +49 (0)38180113594 volha.skrahina@centogene.com
Contact: Snezana Skobalj, MD +49 (0)38180113591 snezana.skobalj@centogene.com
Listed Location Countries Austria,   Hungary,   North Macedonia,   Poland,   Serbia,   Spain
Removed Location Countries Germany
 
Administrative Information
NCT Number NCT01705626
Other Study ID Numbers TRAP 08-2012
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Centogene AG Rostock
Study Sponsor Centogene AG Rostock
Collaborators Not Provided
Investigators
Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock
PRS Account Centogene AG Rostock
Verification Date April 2020