Polyneuropathy, AmyloidTRAP2-1NCT01705626
Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP)
An observational study of Polyneuropathy, Amyloid and Neuropathic Pain, run by CENTOGENE GmbH Rostock at 11 sites in 6 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 85 years
- Conditions the study is for
- Polyneuropathy, Amyloid, Neuropathic Pain, Cardiac Failure
- How many people
- 500 participants
- Where
- 11 sitesin 6 countries
- Study dates
- Dec 2016to 27 May 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Participants diagnosed with small fiber polyneuropathy of no obvious etiology.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
11 sites in 6 countries.
11 sites in 6 countries
Serbia4 sites
Clinical Hospital Center Zvezdara, Department of Neurology
Belgrade, 11000
University of Belgrade, Clinical Center of Serbia, Neurology Clinic, Neuropathy Center
Belgrade, 11000
Clinical Center Niš, Department of Neurology
Niš, 18000
General Hospital "Dr. Djordje Joanović"
Zrenjanin, 23000
Hungary2 sites
University of Pécs, Department of Neurology
Pécs, 7624
University of Szeged, Department of Neurology
Szeged, 6725
Spain2 sites
Hospital Infanta Leonor
Madrid, 28031
Hospital Universitario Donostia
San Sebastián, 20700
Austria1 site
Klinikum Wels-Grieskirchen GmbH, Abteilung für Neurologie
Wels, 4600
North Macedonia1 site
University Hospital Skopje, Department of Neurology
Skopje, 1000
Poland1 site
Jagiellonian University Medical College, Department of Neurology
Krakow, 31-503
About this study
Official title: Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP): An International, Multicenter, Epidemiological Protocol
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.
Read the 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.
- Conditions
- Polyneuropathy, Amyloid, Neuropathic Pain, Cardiac Failure, Orthostatic Hypotension, Gastrointestinal Disorders
- Keywords
- Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, TTR FAP, Biomarker
- Medical subject headings
- Amyloid Neuropathies, Neuralgia, Heart Failure, Hypotension, Orthostatic, Gastrointestinal Diseases, Amyloid Neuropathies, Familial
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants diagnosed with small fiber polyneuropathy no obvious etiology | 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Epidemiological analysis of prevalence of the TTR FAP in participants with small fiber polyneuropathy of no obvious etiology.
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
Measured: 3 years
Secondary outcomes (1)
Establishment of a biomarker in TTR-positive cohort
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.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Oct 2012 (estimated)
- Study startDec 2016
- Primary completion27 May 2022
- Study completion27 May 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Polyneuropathy, AmyloidStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof., Study chair, Centogene GmgH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01705626
- Sponsor's protocol ID
- TRAP 08-2012
- Acronym
- TRAP2-1
- Status last verified
- May 2022
- First submitted
- 9 Oct 2012
- Last updated
- 6 Jun 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 6 Jun 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP): An International, Multicenter, Epidemiological Protocol
- ClinicalTrials.gov ID
- NCT01705626
- Acronym / sponsor ID
- TRAP2-1 / TRAP 08-2012
- Conditions
- Polyneuropathy, Amyloid, Neuropathic Pain, Cardiac Failure, Orthostatic Hypotension, Gastrointestinal Disorders
- Keywords
- Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, TTR FAP, Biomarker
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 500 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- Dec 2016 (actual)
- Primary completion
- 27 May 2022 (actual)
- Study completion
- 27 May 2022 (actual)
- First posted
- 12 Oct 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants diagnosed with small fiber polyneuropathy no obvious etiology | – | –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 |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants diagnosed with small fiber polyneuropathy of no obvious etiology.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
1 secondary outcome
Establishment of a biomarker in TTR-positive cohort
Time frame: 3 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jun 2022.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, Prof. study chair
Centogene GmgH
11 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Polyneuropathy, Amyloid and Neuropathic Pain, run by CENTOGENE GmbH Rostock at 11 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in Serbia, Hungary, Spain, Austria, North Macedonia and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Epidemiological analysis of prevalence of the TTR FAP in participants with small fiber polyneuropathy of no obvious etiology. (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jun 2022.