Amyloid Neuropathies, FamilialTTR-FAPNCT03720275
Early and Systematic Screening in Chronic Neuropathy
A study testing Systematic screening of TTR mutations in people with Amyloid Neuropathies, Familial, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore early onset treatment. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- Amyloid Neuropathies, Familial
- What is being tested?
- Systematic screening of TTR mutations
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 130 participants
- Where
- 1 siteFrance
- Study dates
- 27 Nov 2018to 23 Dec 2021
- Phase
- Interventional
- 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 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patients of both sexes presenting chronically (> 3 months):
- neuropathy confirmed by an electroneuromyography
- without obvious etiology (diabetes, alcohol consumption, renal insufficiency, neurotoxic substances intake, family history of diagnosed hereditary neuropathy)
- without anomaly of the following biological examinations: fasting blood glucose, blood count, gamma-glutamyl transferases, average cell volume, transaminases, serum creatinine clearance, C-reactive protein, TSH
- Aged 18 to 90 years Patients giving their free and informed consent to participate, after research information
Who cannot join
- People placed under the protection of justice.
- Patients who are not affiliated or who are not beneficiaries of a social security scheme
- Patients with chronic neuropathy related to a known etiology
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of a New Diagnostic Approach to Familial Amyloid Neuropathy by Mutation of the TTR Gene in a Population of Idiopathic Chronic Neuropathies
TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore early onset treatment. Our project is to evaluate the prevalence of TTR-FAP in a series of 130 patients with from chronic neuropathy of undetermined aetiology through a systematic screening of TTR mutations.
Read the detailed description
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder, highly disabling and life-threatening, resulting of transthyretin (TTR) gene mutation. Clinically, TTR FAP is characterized by progressive sensorimotor and dysautonomic neuropathy, usually fatal within a few years. The disease prevalence is highly variable, with a large genotypic and phenotypic heterogeneity. Early and accurate diagnosis remains essential to propose early treatment. New pharmacotherapies have been developed, such as Tafamidis®, and many patients can avoid liver transplant formerly considered as the only therapeutic option. The prevalence of TTR-FAP disease has been previously estimated in series of patients with severe and progressive neuropathy, frequently leading to a delayed diagnosis. TTR-FAP is also easily suspected when neuropathy is associated with cardiac symptoms or dysautonomia.
Currently, genetic testing of TTR-FAP is targeted and is only prescribed to patients in whom the first-line assessment recommended by the High Authority for Health (HAS) did not identify a cause, and on the basis of a worsening of symptoms. An early diagnosis in those cases would allow earlier treatment and monitoring. No data are available about the prevalence of TTR-FAP in populations of patients with from chronic neuropathy of unknown aetiology, through a systematic screening of TTR mutations.
The diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene.
The patients with a diagnosis of TTR-FAP confirmed during this study will be seen for an additional visit in the Investigating Centre and proposed suitable follow up, treatment and care.
- Conditions
- Amyloid Neuropathies, Familial
- Being tested
- Systematic screening of TTR mutations
- Keywords
- proportion, TTR-FAP, study, neuropathy
- Medical subject headings
- Amyloid Neuropathies, Familial
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Systematic screening of TTR mutationsGenetic
The diagnosis of TTR-FAP requires genetic analysis using direct sequencing of TTR gene.The diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene.
| Study group | Role | What they receive |
|---|---|---|
| patients with chronic neuropathy of unknown aetiology | Experimental | For the 130 patients with chronic neuropathy of unknown aetiology, the diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene. Receives: Genetic: Systematic screening of TTR mutations |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnosis of TTR-FAP
Proportion of TTR-FAP in the 130 patients with chronic neuropathy of unknown aetiology
Measured: Genetic analyzes will be performed every three months from the first inclusion
Secondary outcomes (14)
Age of patient at diagnosis
Measured: at the inclusion visit
History of dysautonomias
History of dysautonomias at the interview
Measured: at the inclusion visit
Signs of dysautonomias
signs of dysautonomias at the interview
Measured: at the inclusion visit
Weight of patient
weight
Measured: at the inclusion visit
Height of patient
height
Measured: at the inclusion visit
Motor deficit of the lower limbs evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
The Motor deficit of the lower limbs will be assessed through a sub score of the Neuropathy Impairment Scale (NIS). The maximum score on the NIS scale is 244 points. The motor sub score, including the evaluation of the upper and lower limbs, is scored on 192 points. This scale allows to obtain a quantification of the clinical examination. Each item is evaluated between 0 and 4 points.
Measured: at the inclusion visit
Motor deficit of the upper limbs evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
The Motor deficit of the upper limbs will be assessed through a sub score of the Neuropathy Impairment Scale (NIS). The maximum score on the scale is 244 points. The motor sub score, including the evaluation of the upper and lower limbs, is scored on 192 points. This scale allows to obtain a quantification of the clinical examination. Each item is evaluated between 0 and 4 points.
Measured: at the inclusion visit
Sensory deficit evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
The Sensory deficit will be assessed through a sub score of the Neuropathy Impairment Scale (NIS). The maximum score on the scale is 244 points. The sensory sub score is scored on 20 points. This scale allows to obtain a quantification of the clinical examination. Each item is evaluated between 0 and 2 points.
Measured: at the inclusion visit
Presence / Absence of reflexes osteo-tendinous evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
The Presence/Absence of reflexes osteo-tendinous will be assessed through a sub score of the Neuropathy Impairment Scale (NIS). The maximum score on the scale is 88 points. The reflexes sub score is scored on 8 points. This scale allows to obtain a quantification of the clinical examination. Each item is evaluated between 0 and 2 points.
Measured: at the inclusion visit
Presence of orthostatic hypotension
Blood pressure measurement by the nurse
Measured: at the inclusion visit
Dysautonomia score
Score at the clinical scale assessing autonomic dysfunction according to 5 modalities: orthostatic hypotension, high digestive motor disorders, low digestive motor disorders, vesicosphincteric disorders, erectile dysfunction
Measured: at the inclusion visit
Rasch-built Overall Disability Scale (RODS) score
Score at the RODS, a functional scale that captures daily activity and social participation limitations in patients affected by polyneuropathy (self-questionnaire)
Measured: at the inclusion visit
Overall Neuropathy Limitations Scale (ONLS) score
The ONLS is a validated neuropathy functional scale evaluating the performance of upper and lower cells. The upper limbs sub score is scored on 5 points and the lower limbs sub score is scored on 7 points. The scale thus ranges from 0 (no disability) to 12 points (disability maximum)
Measured: at the inclusion visit
Electroneuromyography findings (ENMG): axonal, demyelinating or mixed neuropathy).
Measured: at the inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Oct 2018
- Study start27 Nov 2018
- Primary completion27 May 2020
- Study completion23 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Amyloid Neuropathies, FamilialStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 130 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Collaborators
- University of Bordeaux
- Responsible party
- Sponsor
- Investigators
- Guilhem Solé, MD, Principal investigator, University Hospital Bordeaux, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03720275
- Sponsor's protocol ID
- CHUBX 2016/35
- Other IDs
- 2018-A00884-51
- Acronym
- TTR-FAP
- Status last verified
- Oct 2023
- First submitted
- 12 Oct 2018
- Last updated
- 2 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of a New Diagnostic Approach to Familial Amyloid Neuropathy by Mutation of the TTR Gene in a Population of Idiopathic Chronic Neuropathies
- ClinicalTrials.gov ID
- NCT03720275
- Acronym / sponsor ID
- TTR-FAP / CHUBX 2016/35
- Conditions
- Amyloid Neuropathies, Familial
- Keywords
- proportion, TTR-FAP, study, neuropathy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 130 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Collaborators
- University of Bordeaux
- Study start
- 27 Nov 2018 (actual)
- Primary completion
- 27 May 2020 (actual)
- Study completion
- 23 Dec 2021 (actual)
- First posted
- 25 Oct 2018 (actual)
- 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.
TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore early onset treatment. Our project is to evaluate the prevalence of TTR-FAP in a series of 130 patients with from chronic neuropathy of undetermined aetiology through a systematic screening of TTR mutations.
Detailed description
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder, highly disabling and life-threatening, resulting of transthyretin (TTR) gene mutation. Clinically, TTR FAP is characterized by progressive sensorimotor and dysautonomic neuropathy, usually fatal within a few years. The disease prevalence is highly variable, with a large genotypic and phenotypic heterogeneity. Early and accurate diagnosis remains essential to propose early treatment. New pharmacotherapies have been developed, such as Tafamidis®, and many patients can avoid liver transplant formerly considered as the only therapeutic option. The prevalence of TTR-FAP disease has been previously estimated in series of patients with severe and progressive neuropathy, frequently leading to a delayed diagnosis. TTR-FAP is also easily suspected when neuropathy is associated with cardiac symptoms or dysautonomia.
Currently, genetic testing of TTR-FAP is targeted and is only prescribed to patients in whom the first-line assessment recommended by the High Authority for Health (HAS) did not identify a cause, and on the basis of a worsening of symptoms. An early diagnosis in those cases would allow earlier treatment and monitoring. No data are available about the prevalence of TTR-FAP in populations of patients with from chronic neuropathy of unknown aetiology, through a systematic screening of TTR mutations.
The diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene.
The patients with a diagnosis of TTR-FAP confirmed during this study will be seen for an additional visit in the Investigating Centre and proposed suitable follow up, treatment and care.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with chronic neuropathy of unknown aetiology | Experimental | Genetic: Systematic screening of TTR mutationsFor the 130 patients with chronic neuropathy of unknown aetiology, the diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene. |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Patients of both sexes presenting chronically (> 3 months):
- Aged 18 to 90 years Patients giving their free and informed consent to participate, after research information
Key exclusion criteria (3 listed)
- People placed under the protection of justice.
- Patients who are not affiliated or who are not beneficiaries of a social security scheme
- Patients with chronic neuropathy related to a known etiology
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Systematic screening of TTR mutationsThe diagnosis of TTR-FAP requires genetic analysis using direct sequencing of TTR gene.The diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene. | Genetic | patients with chronic neuropathy of unknown aetiology |
Primary outcome
Diagnosis of TTR-FAP
Time frame: Genetic analyzes will be performed every three months from the first inclusion
Proportion of TTR-FAP in the 130 patients with chronic neuropathy of unknown aetiology
14 secondary outcomes
Age of patient at diagnosis
Time frame: at the inclusion visit
History of dysautonomias
Time frame: at the inclusion visit
Signs of dysautonomias
Time frame: at the inclusion visit
Weight of patient
Time frame: at the inclusion visit
Height of patient
Time frame: at the inclusion visit
Motor deficit of the lower limbs evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
Time frame: at the inclusion visit
Motor deficit of the upper limbs evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
Time frame: at the inclusion visit
Sensory deficit evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
Time frame: at the inclusion visit
Presence / Absence of reflexes osteo-tendinous evaluated by a subscore of the Neuropathy Impairment Scale (NIS)
Time frame: at the inclusion visit
Presence of orthostatic hypotension
Time frame: at the inclusion visit
Dysautonomia score
Time frame: at the inclusion visit
Rasch-built Overall Disability Scale (RODS) score
Time frame: at the inclusion visit
Overall Neuropathy Limitations Scale (ONLS) score
Time frame: at the inclusion visit
Electroneuromyography findings (ENMG): axonal, demyelinating or mixed neuropathy).
Time frame: at the inclusion visit
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 2 Jun 2026.
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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.
Guilhem Solé, MD principal investigator
University Hospital Bordeaux, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Systematic screening of TTR mutations in people with Amyloid Neuropathies, Familial, run by University Hospital, Bordeaux at 1 site in France.
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 3 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 2 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. 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?
Diagnosis of TTR-FAP (time frame: Genetic analyzes will be performed every three months from the first inclusion). 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 2 Jun 2026.