Phenotypic Manifestations of Hereditary ATTR Amyloidosis

Summary

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

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

Sponsors & Collaborators

• Instituto de Cardiología de Corrientes

  collaborator OTHER

• Hospital 9 de Julio de Las Breñas

  lead OTHER_GOV

Principal Investigators

• Mauricio MT Tomei, MD · Hospital 9 de Julio de Las Breñas

Eligibility

Min Age

20 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2024-09-01

Primary Completion

2026-12-30

Completion

2027-03-01

Countries

• Argentina

Study Locations