Phenotypic Manifestations of Hereditary ATTR Amyloidosis

N/AEnrolling By InvitationNCT07124377

Hospital 9 de Julio de Las Breñas57 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

Conditions

Hereditary Amyloidosis, Transthyretin-Related

Interventions

A complete physical examination of all body systems, including height and body weightOTHER

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.OTHER

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Electrocardiogram (12-lead ECG)

Eligibility

Sex: ALLMin age: 20 Years

Medical Language ↔ Plain English

Inclusion Criteria: * All subjects between 20 and 70 years of age, carriers of the Val50Met variant Exclusion Criteria: * Patients who refuse to participate.

Locations (1)

Hospital las Breñas 9 de Julio

Charata, Chaco Province, Argentina

Outcomes

Primary Outcomes

Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population.

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.

Time frame: 2 years

Secondary Outcomes

Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic.

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.

Time frame: 2 years

Data from ClinicalTrials.gov

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