Clinical trial NCT03190577: Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Official title: Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Familial Amyloid Neuropathy
Transthyretin Amyloidosis
Keywords: Transthyretin mutation
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
Collaborators: name: Pfizer
First posted: 2017-06-19
Enrollment: 400
Sex: ALL
Minimum age (years): 18
Maximum age (years): 90
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.


Eligibility criteria: Inclusion Criteria:

* 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

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

Primary outcomes:
measure: to evaluate the prevalence of TTR amyloidosis
timeFrame: inclusion
Secondary outcomes:
measure: To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy
timeFrame: inclusion
measure: Description of the TTR-FAP cohort
timeFrame: inclusion
Other outcomes:
Locations:
city: Angers
country: France
facility: Chu Angers
city: Brest
country: France
facility: Chru Brest
city: La Roche-sur-Yon
country: France
facility: Chd La Roche Sur Yon
city: La Rochelle
country: France
facility: Ch La Rochelle
city: Le Mans
country: France
facility: Ch Le Mans
city: Nantes
country: France
facility: Chu Nantes
city: Poitiers
country: France
facility: Chu Poitiers
city: Quimper
country: France
facility: Ch Quimper
city: Saint-Brieuc
country: France
facility: Ch Saint Brieuc
city: Saint-Grégoire
country: France
facility: CHP Saint-Grégoire - Cabinet de Neurologie ENMG
city: Saint-Nazaire
country: France
facility: Ch Saint Nazaire
city: Tours
country: France
facility: Chru Tours
Study officials:
References: