Familial Amyloid NeuropathyPRE-TRANSNCT03190577
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
A study testing blood sample in people with Familial Amyloid Neuropathy and Transthyretin Amyloidosis, run by Nantes University Hospital at 12 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- Familial Amyloid Neuropathy, Transthyretin Amyloidosis
- What is being tested?
- blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 400 participants
- Where
- 12 sitesFrance
- Study dates
- 21 Sep 2017to 23 May 2022
- 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
- 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
Who cannot join
None listed.
Trial locations and contacts
12 sites in 1 country.
12 sites in 1 country
France12 sites
Chu Angers
Angers, 49000
Chru Brest
Brest, 29609
Chd La Roche Sur Yon
La Roche-sur-Yon, 85000
Ch La Rochelle
La Rochelle, 17019
Ch Le Mans
Le Mans, 72033
Chu Nantes
Nantes
Chu Poitiers
Poitiers, 86021
Ch Quimper
Quimper, 29107
Ch Saint Brieuc
Saint-Brieuc, 22000
CHP Saint-Grégoire - Cabinet de Neurologie ENMG
Saint-Grégoire, 35760
Ch Saint Nazaire
Saint-Nazaire, 44606
Chru Tours
Tours, 37044
About this study
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.
- Being tested
- blood sample
- Keywords
- Transthyretin mutation
- Medical subject headings
- Amyloid Neuropathies, Familial, Amyloidosis, Hereditary, Transthyretin-Related
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleGenetic
two 5 ML EDTA tubes of blood will be collected once by patient
| Study group | Role | What they receive |
|---|---|---|
| patients with neuropathy of unknown aetiology | Experimental | from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation Receives: Genetic: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
to evaluate the prevalence of TTR amyloidosis
number of patients with TTR mutation
Measured: inclusion
Secondary outcomes (2)
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
Measured: inclusion
Description of the TTR-FAP cohort
medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms
Measured: inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jun 2017
- Study start21 Sep 2017
- Primary completion23 May 2022
- Study completion23 May 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Familial Amyloid NeuropathyStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe sponsor's other registered studies.
- 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
- 400 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Pfizer
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03190577
- Sponsor's protocol ID
- RC16_0427
- Acronym
- PRE-TRANS
- Status last verified
- Jul 2022
- First submitted
- 14 Jun 2017
- Last updated
- 14 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 40586114
Study at a glance
From the registry record, last updated by the sponsor on 14 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
- ClinicalTrials.gov ID
- NCT03190577
- Acronym / sponsor ID
- PRE-TRANS / RC16_0427
- Keywords
- Transthyretin mutation
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 400 participants (actual)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Collaborators
- Pfizer
- Study start
- 21 Sep 2017 (actual)
- Primary completion
- 23 May 2022 (actual)
- Study completion
- 23 May 2022 (actual)
- First posted
- 19 Jun 2017 (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.
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.
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 neuropathy of unknown aetiology | Experimental | Genetic: blood samplefrom a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| blood sampletwo 5 ML EDTA tubes of blood will be collected once by patient | Genetic | patients with neuropathy of unknown aetiology |
Primary outcome
to evaluate the prevalence of TTR amyloidosis
Time frame: inclusion
number of patients with TTR mutation
2 secondary outcomes
To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy
Time frame: inclusion
Description of the TTR-FAP cohort
Time frame: inclusion
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 14 Sep 2026.
- Results publication: PubMed 40586114Magot 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.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
12 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood sample in people with Familial Amyloid Neuropathy and Transthyretin Amyloidosis, run by Nantes University Hospital at 12 sites 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 7 inclusion and 0 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 14 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites 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?
to evaluate the prevalence of TTR amyloidosis (time frame: inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03190577, which also lists 1 linked publication.
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 14 Sep 2026.