RECRUITINGINTERVENTIONAL

Exploring Biomarkers in Hereditary Transthyretin Amyloidosis

Exploring Biomarkers in Hereditary Transthyretin Amyloidosis: From Clinical Severity Assessment to New Disease Mechanisms

About This Trial

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous systemic condition due to mutations in the transthyretin (TTR) gene. The availability of disease-modifying therapies has led to an urgent need to have reliable biomarkers capable of assessing the clinical severity of the disease and of monitoring the efficacy of pharmacological treatment. At the same time, early markers for the clinical onset of ATTRv amyloidosis in presymptomatic subjects are needed to enable earlier initiation of anti-amyloid therapy. In this project the investigators seek to achieve three main goals: to identify and validate disease severity biomarkers in symptomatic patients; to establish disease onset biomarkers of ATTRv amyloidosis in presymptomatic subjects; to explore new pathogenetic mechanisms underlying this multisystem disorder, such as mitochondrial dysfunction and immune response.

Who May Be Eligible (Plain English)

Who May Qualify: 1. Molecularly defined patients with hereditary transthyretin amyloidosis, carrying TTR pathogenic variants 2. Presymptomatic carriers of the pathogenic variants in TTR gene 3. Subjects aged 18 years or older 4. Evidence of a personally signed and dated willing to sign a consent form document indicating that the subject has been informed of all pertinent aspects of the study Who Should NOT Join This Trial: 1. Inability to understand or unwilling to follow the study requirements including attendance at the study center, completion of questionnaires and participation in laboratory testing as called for by the protocol 2. Inability to sign an willing to sign a consent form 3. Severe psychiatric diseases Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

Inclusion Criteria: 1. Molecularly defined patients with hereditary transthyretin amyloidosis, carrying TTR pathogenic variants 2. Presymptomatic carriers of the pathogenic variants in TTR gene 3. Subjects aged 18 years or older 4. Evidence of a personally signed and dated informed consent document indicating that the subject has been informed of all pertinent aspects of the study Exclusion Criteria: 1. Inability to understand or unwilling to follow the study requirements including attendance at the study center, completion of questionnaires and participation in laboratory testing as called for by the protocol 2. Inability to sign an informed consent 3. Severe psychiatric diseases

Treatments Being Tested

DIAGNOSTIC_TEST

Assessment of disease biomarkers

Assessment of serum, histological and radiological biomarkers

Locations (1)

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Roma, ID, Italy