Evaluating NfL as a biomarker in hereditary ATTR amyloidosis
Prospective Evaluation of Neurofilament Light Chains as a Biomarker in Hereditary Amyloidosis (ATTRv), Including Correlation With Various Measurements of Disease Severity and Progression.
Fondazione Policlinico Universitario Agostino Gemelli IRCCS · NCT05879874
This study is testing if measuring a protein called NfL can help track how hereditary ATTR amyloidosis is progressing in adults with specific gene mutations and nerve damage.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 18 Years to 100 Years |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS (other) |
| Locations | 1 site (Rome) |
| Trial ID | NCT05879874 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate neurofilament light chain (NfL) as a sensitive biomarker for assessing disease progression and severity in patients with hereditary ATTR amyloidosis. It focuses on adult patients with confirmed TTR mutations who exhibit polyneuropathy and are undergoing treatment with specific therapies. By measuring NfL levels, the study seeks to establish correlations between biomarker changes and clinical assessments, potentially improving the monitoring of disease progression. The study addresses the limitations of existing assessment methods that may not adequately capture the onset or progression of the disease.
Who should consider this trial
Good fit: Ideal candidates include adult patients with hereditary ATTR amyloidosis and polyneuropathy who have a confirmed TTR disease-causing mutation.
Not a fit: Patients under 18 years old, pregnant women, or those who refuse to participate will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a more sensitive and efficient way to monitor disease progression in patients with hereditary ATTR amyloidosis.
How similar studies have performed: While the use of NfL as a biomarker in other neurological disorders has shown promise, this specific application in hereditary ATTR amyloidosis is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Adult patients with hATTR amyloidosis with polyneuropathy with a confirmed TTR disease-causing mutation (NIS score between 5 and 130 points at baseline). * Patients on hATTR amyloidosis therapy with gene silencers (patisiran or inotersen) and TTR stabilizers (tafamidis at doses of 20 or 61 mg). * Patients who gave consent to participate in the study. Exclusion Criteria: * Patients aged \< 18 years * Pregnant women * Patients who refused to give their consent to participate in the study.
Where this trial is running
Rome
- Fondazione Policlinico Gemelli IRCCS — Rome, Italy (RECRUITING)
Study contacts
- Principal investigator: Marco Luigetti — Fondazione Policlinico Universitario A. Gemelli, IRCCS
- Study coordinator: Marco Luigetti
- Email: marco.luiigetti@policlinicogemelli.it
- Phone: +390630154435
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.
Conditions: Amyloidosis, Hereditary, ATTRv, NfL, Disease progression, Disease severity