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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 | 3 years |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 3 years |
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Inclusion Criteria:
Exclusion Criteria:
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Participants diagnosed with small fiber polyneuropathy of no obvious etiology.
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| Name | Affiliation | Role |
|---|---|---|
| Peter Bauer, Prof. | Centogene GmgH | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Klinikum Wels-Grieskirchen GmbH, Abteilung für Neurologie | Wels | 4600 | Austria | |||
| University of Pécs, Department of Neurology |
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Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)
| Pécs |
| 7624 |
| Hungary |
| University of Szeged, Department of Neurology | Szeged | 6725 | Hungary |
| University Hospital Skopje, Department of Neurology | Skopje | 1000 | North Macedonia |
| Jagiellonian University Medical College, Department of Neurology | Krakow | 31-503 | Poland |
| Clinical Hospital Center Zvezdara, Department of Neurology | Belgrade | 11000 | Serbia |
| University of Belgrade, Clinical Center of Serbia, Neurology Clinic, Neuropathy Center | Belgrade | 11000 | Serbia |
| Clinical Center Niš, Department of Neurology | Niš | 18000 | Serbia |
| General Hospital "Dr. Djordje Joanović" | Zrenjanin | 23000 | Serbia |
| Hospital Infanta Leonor | Madrid | 28031 | Spain |
| Hospital Universitario Donostia | San Sebastián | 20700 | Spain |
| ID | Term |
|---|---|
| D017772 | Amyloid Neuropathies |
| D009437 | Neuralgia |
| D006333 | Heart Failure |
| D007024 | Hypotension, Orthostatic |
| D005767 | Gastrointestinal Diseases |
| D028227 | Amyloid Neuropathies, Familial |
| ID | Term |
|---|---|
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D000686 | Amyloidosis |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D010146 | Pain |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D054971 | Orthostatic Intolerance |
| D054969 | Primary Dysautonomias |
| D001342 | Autonomic Nervous System Diseases |
| D007022 | Hypotension |
| D014652 | Vascular Diseases |
| D004066 | Digestive System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028226 | Amyloidosis, Familial |
| D008661 | Metabolism, Inborn Errors |
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