NCT07124377

Phenotypic Manifestations of Hereditary ATTR Amyloidosis

Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 57 (estimated)
• Sponsor: Hospital 9 de Julio de Las Breñas · Other Government
• Sex: All
• Age: 20 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Hereditary Amyloidosis, Transthyretin-Related

Interventions

Type	Name	Description
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

Timeline

• Start date: 2024-09-01
• Primary completion: 2026-12-30
• Completion: 2027-03-01
• First posted: 2025-08-15
• Last updated: 2026-04-02

Locations

2 sites across 1 country: Argentina