Exploring Biomarkers in Hereditary Transthyretin Amyloidosis
Recruiting now · Not applicable
Conditions studied: Hereditary Transthyretin Amyloidosis
In brief
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.
Key facts
- Study ID
- NCT05929209
- Run by
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- People needed
- 80
- Starts
- 2023-05-01
- Expected to finish
- 2026-04-30
- Last updated by the study team
- 2024-09-24
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- 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
- Evidence of a personally signed and dated informed consent document indicating that the subject has been informed of all pertinent aspects of the study
You may not qualify if…
- 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
- Inability to sign an informed consent
- Severe psychiatric diseases
Where it is running
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS — Roma, ID, Italy (enrolling)
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.