Identifying biomarkers for hereditary transthyretin amyloidosis
Exploring Biomarkers in Hereditary Transthyretin Amyloidosis: From Clinical Severity Assessment to New Disease Mechanisms
This study is trying to find specific markers in the blood that can help doctors understand how severe hereditary transthyretin amyloidosis is in patients and spot it early in those who don’t have symptoms yet.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 80 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Roma, ID) |
| Trial ID | NCT05929209 on ClinicalTrials.gov |
What this trial studies
This study focuses on hereditary transthyretin amyloidosis (ATTRv), a severe genetic disorder caused by mutations in the transthyretin gene. The researchers aim to identify and validate biomarkers that can assess disease severity in symptomatic patients and establish early markers for presymptomatic individuals. Additionally, the study will explore new mechanisms of the disease, including mitochondrial dysfunction and immune response. The approach involves comprehensive assessments of disease biomarkers to enhance treatment monitoring and early intervention.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 18 and older with molecularly defined hereditary transthyretin amyloidosis or presymptomatic carriers of TTR gene pathogenic variants.
Not a fit: Patients who are unable to understand or follow study requirements, or those with severe psychiatric diseases, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier diagnosis and more effective management of hereditary transthyretin amyloidosis.
How similar studies have performed: Other studies have shown promise in identifying biomarkers for similar conditions, but this specific approach is novel in the context of hereditary transthyretin amyloidosis.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Roma, ID
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS — Roma, Id, Italy (Recruiting)
Study contacts
- Study coordinator: Guido Alessandro Primiano
- Email: guidoalessandro.primiano@policlinicogemelli.it
- Phone: +39 0630154279
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.