Actively Recruiting
Exploring Biomarkers in Hereditary Transthyretin Amyloidosis
Led by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Updated on 2024-09-24
80
Participants Needed
1
Research Sites
156 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Exploring Biomarkers in Hereditary Transthyretin Amyloidosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Molecularly defined patients with hereditary transthyretin amyloidosis, carrying TTR pathogenic variants
- Presymptomatic carriers of the pathogenic variants in TTR gene
- Subjects aged 18 years or older
- Signed informed consent indicating understanding of the study
You will not qualify if you...
- Unable or unwilling to follow study requirements including visits and questionnaires
- Unable to sign informed consent
- Severe psychiatric diseases
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Roma, ID, Italy, 00168
Actively Recruiting
Research Team
G
Guido Alessandro Primiano
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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