Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology

NCT03190577 | Completed

• 1 other identifier: RC16_0427
• Study Type: interventional
• Target: 400
• Locations: 1 country
• Sites: 12

Brief Summary

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.

Conditions

Familial Amyloid Neuropathy; Transthyretin Amyloidosis

Keywords

Transthyretin mutation

Outcome Measures

Primary Outcomes (1)

• to evaluate the prevalence of TTR amyloidosis

  number of patients with TTR mutation

  inclusion

Secondary Outcomes (2)

• To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy

  inclusion

• Description of the TTR-FAP cohort

  inclusion

Study Arms (1)

patients with neuropathy of unknown aetiology

EXPERIMENTAL

from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation

Genetic: blood sample

Interventions

blood sample GENETIC

two 5 ML EDTA tubes of blood will be collected once by patient

patients with neuropathy of unknown aetiology

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adult patient (male and female) aged not more than 90 years old
• Patients with neuropathy identified by EDX exam or small fibre neuropathy identified from a skin biopsy.
• Patients who have undergone the minimal assessment for neuropathy as defined by the HAS (French National Health Authority): biological analysis (fasting glucose, CBC, liver and renal functions, CRP, pituitary TSH)
• Patients belonging to the social security system
• Patient who gave written informed consent
• Patients who have already been investigated for a TTR mutation Pregnant women Minors

Sponsors & Collaborators

• Nantes University Hospital: lead
• Pfizer: collaborator

Study Sites (12)

Chu Angers

Angers, 49000, France

Location

Chru Brest

Brest, 29609, France

Location

Chd La Roche Sur Yon

La Roche-sur-Yon, 85000, France

Location

Ch La Rochelle

La Rochelle, 17019, France

Location

Ch Le Mans

Le Mans, 72033, France

Location

Chu Nantes

Nantes, France

Location

Chu Poitiers

Poitiers, 86021, France

Location

Ch Quimper

Quimper, 29107, France

Location

Ch Saint Brieuc

Saint-Brieuc, 22000, France

Location

CHP Saint-Grégoire - Cabinet de Neurologie ENMG

Saint-Grégoire, 35760, France

Location

Ch Saint Nazaire

Saint-Nazaire, 44606, France

Location

Chru Tours

Tours, 37044, France

Location

Related Publications (1)

• 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.

  PMID: 40586114 DERIVED

MeSH Terms

Conditions

Amyloid Neuropathies, Familial; Amyloidosis, Hereditary, Transthyretin-Related

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Amyloid Neuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amyloidosis, Familial; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Amyloidosis; Proteostasis Deficiencies

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 14, 2017
• First Posted: June 19, 2017
• Study Start: September 21, 2017
• Primary Completion: May 23, 2022
• Study Completion: May 23, 2022
• Last Updated: July 14, 2022

Record last verified: 2022-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (12)