Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu

Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy (TRAP2)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01705626
Recruitment Status : Recruiting
First Posted : October 12, 2012
Last Update Posted : March 12, 2019
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 March 12, 2019
Study Start Date December 2016
Estimated Primary Completion Date February 28, 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT01705626 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Outcome Measures Not Provided
Original Other Outcome Measures Not Provided
 
Descriptive Information
Brief Title Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy
Official Title TTR-FAP Screening - Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy - a International, Multicentre, Epidemiological Protocol
Brief Summary The purpose of this study is to determine the prevalence of patients with transthyretin-related familial amyloidotic-polyneuropathy in patients with a polyneuropathy of undetermined etiology, based on medical history (no anamnesis for carcinoma, no continuous alcohol consumption, no anamnesis for heavy metal exposure, no significant comorbidities), and the normal results of laboratory data.
Detailed Description

Neuropathies are generalised disorders of the peripheral nervous system, due to deranged function of the peripheral motor, sensory and autonomic neurons, their fibres or their myelin sheath. Dysfunction of unmyelinated C and myelinated Aδ fibres causes symptoms like insensitivity or hypersensitivity to heat and/or cold and neuropathic pain. These fibres have slow conduction velocities, carrying temperature feeling and pain sensations from nociceptors and thermoreceptors respectively. An isolated disturbance of these fibres leads usually to the diagnosis of small fibre neuropathy (SFN). The pathogenesis of SFN may be of inflammatory, autoimmune, metabolic, toxic or hereditary nature.

Beside the frequent genetic etiologies in SFN, one cause of a genetic polyneuropathy may be a hereditary amyloidosis. The most common form of the hereditary familial amyloidotic neuropathy (FAP) is the Transthyretin-related FAP, a disease frequently misdiagnosed or underdiagnosed.

This study focuses on Transthyretin-related FAP (OMIM: #105210, OMIM: *176300), whose prevalence shall be determined in a cohort of 500 patients with polyneuropathy of unknown etiology, based on medical history (no anamnesis for carcinoma, no continuous alcohol consumption, no anamnesis for heavy metal exposure, no significant comorbidities), and the normal results of laboratory data.

Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
For the molecular genetic diagnosis of the disease TTR-FAP a sequencing of the entire TTR gene in all study patients will be performed. Dried blood spots will be used for this procedure.
Sampling Method Probability Sample
Study Population Adult patients with small fiber polyneuropathy of undetermined etiology based on: the normal results of laboratory data (CRP, glucose, electrolytes, urea,transaminases, TSH, immunoglobulins, vitamin B12, RF, ANA, antibodies against Lyme borrelia), and medical history
Condition
  • Polyneuropathies
  • Amyloidosis
  • Amyloid Neuropathies
  • Amyloidosis, Familial
  • Transthyretin Amyloidosis
Intervention Not Provided
Study Groups/Cohorts Observation
All adult patients older than 18 years with small fiber polyneuropathy of undetermined etiology based on the normal results of laboratory data (CRP, glucose, electrolytes, urea, transaminases, TSH, immunoglobulins, vitamin B12, RF, ANA, antibodies against Lyme borrelia), no anamnesis for carcinoma, no continuous alcohol consumption, no light-chain-amyloidosis and no anamnesis for heavy metal exposure.
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 April 30, 2020
Estimated Primary Completion Date February 28, 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Informed consent will be obtained from the patient before any study related procedures
  • Patients aged older than 18 years
  • Patients with small fiber polyneuropathy of undetermined etiology based on:the normal results of laboratory data (CRP, glucose, electrolytes, urea,transaminases, TSH, immunoglobulins, vitamin B12, RF, ANA, antibodies against Lyme borrelia)
  • No anamnesis for carcinoma
  • No continuous alcohol consumption
  • No light-chain-amyloidosis
  • No anamnesis for heavy metal exposure
  • Progressive idiopathic small fiber polyneuropathy
  • Presence of an electrophysiological examination for N. Peroneus and N. Suralis

Exclusion Criteria:

  • No Informed Consent from the patient before any study related procedures
  • Patients younger than 18 years
  • The etiology of the small fiber polyneuropathy is already known based on:
  • significant pathological results for any of the following laboratory data (CRP, glucose, electrolytes, urea, transaminases, TSH, immunoglobulins, vitamin B12, RF, ANA, antibodies against Lyme borrelia)
  • Positive anamnesis for carcinoma
  • Continuous alcohol consumption
  • Light-chain-amyloidosis
  • Anamnesis for heavy metal exposure
  • No progression of idiopathic small fiber polyneuropathy within the last two years
  • No presence of an electrophysiological examination for N. Peroneus and N. Suralis
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Anton Mamin, PhD anton.mamin@centogene.com
Listed Location Countries Austria,   Hungary,   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 Not Provided
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, MD Centogene AG Rostock
PRS Account Centogene AG Rostock
Verification Date March 2019