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| Name | Class |
|---|---|
| Pfizer | INDUSTRY |
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Familial amyloid neuropathy due to transthyretin gene mutations (TTR-FAP) is a rare autosomal dominant inherited disease resulting in the abnormal multi-system deposition of amyloid proteins. These deposits produce a multi-organ disease. AP is usually fatal 10 to 15 years after onset of symptoms if untreated. The prevalence of the disease remains still poorly understood and usually the search for this pathology is done in a third line of investigation. So the average time to diagnosis is extremely long, from 12 to 24 month. Now that the investigators have etiological treatment ( famidis (Vyndaqel®) and Diflunisal (Dolobid)) of this disease, it is essential to be able to detect FAP patients as early as possible. With this study, investigator decided to test for TTR mutation all patients presented with neuropathy of unknown etiology at the first line of investigation. The goal of this study is to evaluate the prevalence of FAP-TTR among neuropathy and defined the best strategy to test this population for TTR mutations.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| patients with neuropathy of unknown aetiology | Experimental | from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| blood sample | Genetic | two 5 ML EDTA tubes of blood will be collected once by patient |
|
| Measure | Description | Time Frame |
|---|---|---|
| to evaluate the prevalence of TTR amyloidosis | number of patients with TTR mutation | inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy | comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms | inclusion |
| Description of the TTR-FAP cohort |
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Inclusion Criteria:
NON-INCLUSION CRITERIA Patients under legal supervision or guardianship Patients with a confirmed documented diagnosis of the cause of neuropathy Patients with evidence of Charcot Marie Tooth neuropathy: very slowly progressive course, pes cavus.
Patients who have already been investigated for a TTR mutation Pregnant women Minors
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Chu Angers | Angers | 49000 | France | |||
| Chru Brest |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40586114 | Derived | Magot A, Lepetit M, Genestet S, Noury JB, Ollivier Y, Lejeune P, Metzger L, Beltran S, Cassereau J, Pihan M, Kolev I, Pegat B, Boyer K, Stancu A, Baron C, Dahimene F, Perrault C, Martineau AS, Pere M, Bezieau S, Kyndt F, Pereon Y. Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene Mutations. J Peripher Nerv Syst. 2025 Sep;30(3):e70043. doi: 10.1111/jns.70043. |
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medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms |
| inclusion |
| Brest |
| 29609 |
| France |
| Chd La Roche Sur Yon | La Roche-sur-Yon | 85000 | France |
| Ch La Rochelle | La Rochelle | 17019 | France |
| Ch Le Mans | Le Mans | 72033 | France |
| Chu Nantes | Nantes | France |
| Chu Poitiers | Poitiers | 86021 | France |
| Ch Quimper | Quimper | 29107 | France |
| Ch Saint Brieuc | Saint-Brieuc | 22000 | France |
| CHP Saint-Grégoire - Cabinet de Neurologie ENMG | Saint-Grégoire | 35760 | France |
| Ch Saint Nazaire | Saint-Nazaire | 44606 | France |
| Chru Tours | Tours | 37044 | France |
| ID | Term |
|---|---|
| D028227 | Amyloid Neuropathies, Familial |
| C567782 | Amyloidosis, Hereditary, Transthyretin-Related |
| ID | Term |
|---|---|
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D017772 | Amyloid Neuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028226 | Amyloidosis, Familial |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D000686 | Amyloidosis |
| D057165 | Proteostasis Deficiencies |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
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