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Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy (TRAP2.1) (TRAP2-1)

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ClinicalTrials.gov Identifier: NCT01705626
Recruitment Status : Recruiting
First Posted : October 12, 2012
Last Update Posted : May 15, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

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.

Condition or disease
Transthyretin Amyloidosis Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy Polyneuropathies

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.


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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: TTR-FAP Screening - Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy - a International, Multicentre, Epidemiological Protocol
Study Start Date : December 2016
Estimated Primary Completion Date : February 28, 2020
Estimated Study Completion Date : April 30, 2020


Group/Cohort
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.



Biospecimen Retention:   Samples With DNA
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.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
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

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: Volha Skrahina, Dr +4938180113594 ext 594 volha.skrahina@centogene.com

Locations
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Austria
Klinikum Wels Recruiting
Wels, Austria, 4600
Contact: Topakian, Prof         
Hungary
Pecs Medical University Recruiting
Pécs, Hungary, 7624
Contact: Pal, Prof         
Szeged Medical University Recruiting
Szeged, Hungary, 6725
Contact: Vescei, Prof         
Poland
Jagiellonian University Medical College Recruiting
Kraków, Poland
Contact: Tomasz Dziedzic, Dr.         
Serbia
KBC Zvezdara Recruiting
Belgrade, Serbia, 11050
Contact: Kostic, MD         
Clinical Center of Serbia Recruiting
Belgrad, Serbia, 11000
Contact: Stevic, Prof         
Center for Polyneuropathies Clinic of Neurology Recruiting
Belgrad, Serbia
Contact: Zorica Stevic, Prof.         
Klinicko Bolnicki Centar Zvezdara Recruiting
Belgrad, Serbia
Contact: Svetlana Kostic-Dedic, Dr.         
Hospital Zrejanin Recruiting
Zrenjanin, Serbia, 23000
Contact: Damjan, MD         
Spain
Hospital de San Sebastian Recruiting
San Sebastián, Spain, 20700
Contact: Poza Aldea, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, MD Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT01705626     History of Changes
Other Study ID Numbers: TRAP 08-2012
First Posted: October 12, 2012    Key Record Dates
Last Update Posted: May 15, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Centogene AG Rostock:
Peripheral Nervous System Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn

Additional relevant MeSH terms:
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Amyloidosis
Polyneuropathies
Amyloid Neuropathies, Familial
Amyloid Neuropathies
Proteostasis Deficiencies
Metabolic Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Amyloidosis, Familial
Metabolism, Inborn Errors