Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-12-31

Study Completion Date

2022-05-27

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

An International, multicenter, epidemiological observational study investigating the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in participants with small fiber polyneuropathy of no obvious etiology.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Study of SOM0226 in Familial Amyloid Polyneuropathy

NCT02191826

Familial Amyloid Polyneuropathy (FAP)

COMPLETED PHASE1/PHASE2

Retrospective Study Collecting Neurological Follow-up of Hereditary Transthyretin Amyloidosis (ATTRv) Patients Included in B3461028 and B3461045.

NCT05560555

Hereditary Transthyretin Amyloidosis (ATTRv) Polyneuropathy

COMPLETED

Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis

NCT00409175

Familial Amyloid Polyneuropathy

COMPLETED PHASE2/PHASE3

A Study to Examine the Clinical Effectiveness of Tafamidis in Patients With Mixed Phenotype Hereditary Transthyretin Amyloidosis

NCT05139680

Hereditary Transthyretin Amyloidosis (ATTRv) Cardiomyopathy (CM), Mixed Phenotype

COMPLETED

An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy

NCT00791492

Familial Amyloid Polyneuropathy ATTR-PN

COMPLETED PHASE2/PHASE3

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant, progressive neurodegenerative disease, with fatal outcome occurring within ten years after onset. Familial amyloid polyneuropathy (FAP) associated with mutations in the transthyretin (TTR) gene is the most common form of genetic amyloidosis. It accounts several thousand cases worldwide, with Val30Met mutation identified in most patients and with endemic foci in Portugal, Sweden and Japan.

TTR FAP is caused by the systemic deposition of amyloidogenic variants of the transthyretin protein ((Ttr) in the extra-cellular space of tissues and result in disruption of organ function.The typical presentation of TTR-FAP is a progressive sensory-motor polyneuropathy, which usually begins with loss of thermal and pain sensation in the feet, slowly ascends up the limbs and is associated with variable autonomic disturbances and extra-neurological manifestations (especially a cardiomyopathy).

The goal of the TRAP2.1 Study is to investigate the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in a cohort of 500 subjects with small fiber polyneuropathy of no obvious etiology, based on the subject's clinical presentation.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Polyneuropathy, Amyloid Neuropathic Pain Cardiac Failure Orthostatic Hypotension Gastrointestinal Disorders

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Participants diagnosed with small fiber polyneuropathy no obvious etiology

Participants aged between 18 and 85 years, diagnosed with small fiber polyneuropathy of no obvious etiology, without diagnosis of alcoholism and not undergoing chemotherapy for cancer

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Informed consent is obtained from the participant
* The participant is aged between 18 and 85 years of age
* The participant is diagnosed with small fiber polyneuropathy of no obvious etiology
* The participant has no diagnosis of alcoholism, according to International Guidelines
* The participant has not undergone chemotherapy for carcinoma

Exclusion Criteria

* Inability to provide informed consent
* The participant is younger than 18 years or older than 85 years of age
* The etiology of the small fiber polyneuropathy is clearly determined
* The participant has a diagnosis of alcoholism, according to International Guidelines
* The participant has undergone chemotherapy for carcinoma

Minimum Eligible Age

18 Years

Maximum Eligible Age

85 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No