Phenotypic Manifestations of Hereditary ATTR Amyloidosis

• Conditions: Hereditary Amyloidosis, Transthyretin-Related

• Registration Number: NCT07124377
• Lead Sponsor: Hospital 9 de Julio de Las Breñas

Brief Summary

This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea

Detailed Description

We aim to describe the phenotypic variables including preclinical, cardiological, neurological, and mixed manifestations in patients carrying the Val50Met variant. Our goal is to identify early disease onset criteria in initially asymptomatic patients, enhancing early detection and treatment strategies. Participants will undergo various clinical examinations and tests to gather comprehensive data.

Study Timeline

• Study Start: 2024-09-01
• Status Verified: 2025-08
• Study First Submitted: 2025-08-01
• Study First Submitted QC: 2025-08-08
• Last Update Submitted: 2025-08-08
• Study First Posted: 2025-08-15
• Last Update Posted: 2025-08-15
• Primary Completion: 2025-12-30
• Study Completion: 2026-03-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 57

Inclusion Criteria

• All subjects between 20 and 70 years of age, carriers of the Val50Met variant

Exclusion Criteria

• Patients who refuse to participate.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population.	2 years	The predominantly cardiac phenotype includes patients with abnormal ECG due to rhythm disturbance, heart failure, or dyspnea, minimal neurologic or GI symptoms, and diagnostic findings such as interventricular septum hypertrophy (\>12 mm), Holter monitoring, and \[99mTc\]Tc-DPD scintigraphy (Peugerini Score 1-3).; The predominantly neurologic phenotype features patients with ongoing neurologic or GI symptoms definitively linked to ATTR amyloidosis, without abnormal ECG findings. Key assessments include autonomic neuropathy (orthostatic hypotension, sexual dysfunction), EMG, Norfolk QoL-DN (-4-246), COMPASS-31 (0-100), and NIS-LL (0-88).; The mixed phenotype includes patients with abnormal ECG and neurologic or GI symptoms of any severity, failing to meet criteria for predominantly cardiac or neurologic phenotypes.

Secondary Outcome Measures

Name	Time	Method
Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic.	2 years	Minimum criteria for disease onset include: (1) one quantified symptom or sign definitively related to the disease, such as sensorimotor neuropathy, autonomic neuropathy, cardiac involvement, or renal/ocular involvement; (2) any symptom probably related with one abnormal test finding; or (3) absence of symptoms with two abnormal test findings.

Trial Locations

Locations (1)

Hospital las Breñas 9 de Julio; 🇦🇷 Charata, Chaco, Argentina