NCT07124377View on ClinicalTrials.gov

Phenotypic Manifestations of Hereditary ATTR Amyloidosis

Enrolling by invitationOBSERVATIONAL
Enrollment

57

Participants

Timeline

Start Date

September 1, 2024

Primary Completion Date

December 30, 2025

Study Completion Date

March 1, 2026

Conditions
Hereditary Amyloidosis, Transthyretin-Related
Interventions
OTHER

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

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

OTHER

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

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

DIAGNOSTIC_TEST

Electrocardiogram (12-lead ECG)

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

DIAGNOSTIC_TEST

24-Hour Holter Monitoring

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

DIAGNOSTIC_TEST

"Color Doppler echocardiography with two-dimensional strain (longitudinal strain)"

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

OTHER

The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN)

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

OTHER

questionnaire, the NIS-LL (Neuropathy Impairment Score in the Lower Limbs)

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

OTHER

COMPASS-31 (Composite Autonomic Symptom Score-31)

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

DIAGNOSTIC_TEST

Electromyogram (EMG)

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

DIAGNOSTIC_TEST

[99mTc]Tc-DPD scintigraphy

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

DIAGNOSTIC_TEST

Laboratory assessments

Laboratory assessments include blood and urine sample collection for serum chemistry, hematology, and urinalysis, with specific biomarker analyses (troponin T, NT-proBNP, Kappa, and Lambda light chains

Trial Locations (1)

6300

Hospital las Breñas 9 de Julio, Charata

All Listed Sponsors
collaborator

Instituto de Cardiología de Corrientes

OTHER

lead

Hospital 9 de Julio de Las Breñas

OTHER_GOV