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NCT Number: NCT03190577

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

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.

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Key information

Conditions

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

Age range

18 year–90 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Chu Angers, Angers, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

blood sample

Genetic

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

Primary outcomes

  1. to evaluate the prevalence of TTR amyloidosis

    Time frame: inclusion

    number of patients with TTR mutation

Secondary outcomes

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

    Time frame: inclusion

    comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms

  2. Description of the TTR-FAP cohort

    Time frame: inclusion

    medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Collaborators

  • Pfizer

Registry information

Acronym: PRE-TRANS

Important dates

Study start
2017
Primary completion
2022
Study completion
2022
First posted
Jun 19, 2017
Registry last updated
Jul 14, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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