How the Val50Met hereditary ATTR variant presents in people from a non-endemic area
Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study
The team will test whether heart and nerve tests can find early signs of disease in adults aged 20–70 who carry the Val50Met transthyretin variant.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 57 (estimated) |
| Ages | 20 Years and up |
| Sex | All |
| Sponsor | Hospital 9 de Julio de Las Breñas Government |
| Locations | 2 sites (Charata, Chaco Province and 1 other locations) |
| Trial ID | NCT07124377 on ClinicalTrials.gov |
What this trial studies
This observational project aims to describe preclinical, cardiological, neurological, and mixed phenotypes in carriers of the Val50Met transthyretin (TTR) variant in a non-endemic area. Adult carriers will undergo comprehensive physical and neurological examinations, 12-lead ECG, 24-hour Holter monitoring, and Doppler echocardiography with two-dimensional longitudinal strain. Data will be collected to identify clinical and instrumental features that appear before symptoms and to define early disease-onset criteria in initially asymptomatic carriers. The findings will be used to inform earlier detection and treatment strategies for similar populations.
Who should consider this trial
Good fit: Adults aged 20–70 who are confirmed carriers of the Val50Met TTR variant, whether asymptomatic or with cardiac/neurological symptoms, are ideal candidates.
Not a fit: People who do not carry the Val50Met variant, individuals outside the 20–70 age range, or those who refuse to participate are unlikely to benefit from this study.
Why it matters
Potential benefit: If successful, the results could enable earlier detection of hereditary ATTR in Val50Met carriers and prompt treatment that may slow disease progression.
How similar studies have performed: Previous phenotyping work in endemic regions has identified early cardiac and neurological markers for Val50Met and other TTR variants, but comparable data from non-endemic populations are limited.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * All subjects between 20 and 70 years of age, carriers of the Val50Met variant Exclusion Criteria: * Patients who refuse to participate.
Where this trial is running
Charata, Chaco Province and 1 other locations
- Hospital las Breñas 9 de Julio — Charata, Chaco Province, Argentina (Enrolling_by_invitation)
- Hosptial Las Breñas — Charata, Chaco Province, Argentina (Recruiting)
Study contacts
- Principal investigator: Mauricio MT Tomei, MD — Hospital 9 de Julio de Las Breñas
- Study coordinator: Mauricio MT TOMEI, MD
- Email: mht10@hotmail.com
- Phone: +5493731558832
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.