Comprehensive program for hereditary transthyretin amyloidosis
Run by Hospital de Alta Complejidad en Red · NCT07213297 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 20 (estimated) |
| Sponsor | Hospital de Alta Complejidad en Red Academic / other |
| Locations | 1 site (Canuelas, Buenos Aires) |
| Status | Recruiting |
| Started | November 1, 2025 |
| Main results expected | November 1, 2028 |
| Study ends | December 1, 2028 |
| Registry record updated | March 24, 2026 |
| Trial ID | NCT07213297 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults (18+) with a confirmed pathogenic TTR gene variant who can attend visits at the participating Buenos Aires site are ideal candidates.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other national and international ATTR registries and observational cohorts have successfully described clinical phenotypes and natural history, helping to inform diagnosis and care.
Who can join: the full rules
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 it's running
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Hospital Cuenca Alta de Cañuelas
Canuelas, Buenos Aires, Argentina Recruiting
Study contacts
- Study coordinator: Gisela Zanga, MD
- Email: gzanga84@hotmail.com
- Phone: +5491156074899
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Investigating early signs of heart disease in specific genetic carriers
This study is trying to find early signs of heart disease in people with a specific genetic mutation linked to a heart condition called amyloidosis to help catch the disease sooner.
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Liver and Coagulation Markers in ATTR Cardiac Amyloidosis
This study tests liver function and blood-clotting markers in people with ATTR-CA to see if they reflect disease severity and progression.
-
TTR stabilizers and blood transthyretin amyloid aggregates in ATTR-CM patients
This research will test whether TTR-stabilizing drugs like tafamidis or acoramidis lower blood levels of transthyretin amyloid aggregates over time in people with ATTR-CM.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.