Brief Summary

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

Trial Health

On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment

participants targeted

Target at P25-P50 for all trials

Timeline

10mo left

Started Sep 2024

Typical duration for all trials

Geographic Reach

1 country

2 active sites

Status

recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

2.5 years study duration

Study Progress67%

Sep 2024Mar 2027

Study Start

First participant enrolled

September 1, 2024

Completed

11 months until next milestone

First Submitted

Initial submission to the registry

August 1, 2025

Completed

14 days until next milestone

First Posted

Study publicly available on registry

August 15, 2025

Completed

1.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 30, 2026

Expected

2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2027

Last Updated

April 2, 2026

Status Verified

March 1, 2026

Enrollment Period

2.3 years

First QC Date

August 1, 2025

Last Update Submit

March 27, 2026

Conditions

Hereditary Amyloidosis, Transthyretin-Related

Keywords

hATTRNon Endemic Area

Outcome Measures

Primary Outcomes (1)

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.
2 years

Secondary Outcomes (1)

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

Study Arms (1)

Carriers of the Val50Met variant

Patients with positive genetic test for patogenic variant of the TTR gene

Other: A complete physical examination of all body systems, including height and body weightOther: Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.Diagnostic Test: Electrocardiogram (12-lead ECG)Diagnostic Test: 24-Hour Holter MonitoringDiagnostic Test: Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain)Other: The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN)Other: questionnaire, the NIS-LL (Neuropathy Impairment Score in the Lower Limbs)Other: COMPASS-31 (Composite Autonomic Symptom Score-31)Diagnostic Test: Electromyogram (EMG)Diagnostic Test: [99mTc]Tc-DPD scintigraphyDiagnostic Test: Laboratory assessments

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