Comprehensive program for hereditary transthyretin amyloidosis
This program will collect detailed clinical and genetic information from adults with hereditary transthyretin amyloidosis to see how the disease starts and progresses.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Hospital de Alta Complejidad en Red Academic / other |
| Locations | 1 site (Canuelas, Buenos Aires) |
| Trial ID | NCT07213297 on ClinicalTrials.gov |
What this trial studies
This prospective observational program will enroll adults with confirmed pathogenic TTR variants and follow them with systematic clinical assessments and complementary diagnostic tests. Genetic testing (sponsored by pharmaceutical partners), organ-focused evaluations, and regular clinical exams will be used to characterize patient phenotypes and disease features. Collected data will be analyzed to identify factors that influence disease progression and to propose minimum criteria for disease onset. Wild-type (non-hereditary) TTR amyloidosis is excluded from participation.
Who should consider this trial
Good fit: Adults (18+) with a confirmed pathogenic TTR gene variant who can attend visits at the participating Buenos Aires site are ideal candidates.
Not a fit: People with wild-type TTR amyloidosis, those without a confirmed pathogenic TTR variant, and individuals seeking direct experimental treatments rather than observational follow-up are unlikely to receive direct benefit.
Why it matters
Potential benefit: If successful, the findings could enable earlier diagnosis and more personalized care for people with hereditary ATTR.
How similar studies have performed: Other national and international ATTR registries and observational cohorts have successfully described clinical phenotypes and natural history, helping to inform diagnosis and care.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: -Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis) Exclusion Criteria: * wild-type TTR amyloidosis
Where this trial is running
Canuelas, Buenos Aires
- Hospital Cuenca Alta de Cañuelas — Canuelas, Buenos Aires, Argentina (Recruiting)
Study contacts
- Study coordinator: Gisela Zanga, MD
- Email: gzanga84@hotmail.com
- Phone: +5491156074899
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.