Phenotypic Manifestations of Hereditary ATTR Amyloidosis

Hospital 9 de Julio de Las Breñas

Status: Invitation-only

Conditions: Hereditary Amyloidosis, Transthyretin-Related

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

Study type: Observational

Funder types: Other

Identifiers

NCT07124377

hATTR Chaco Cluster

Details and patient eligibility

About

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

Full 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.

Enrollment: 57 estimated patients

Sex: All

Ages: 20+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• All subjects between 20 and 70 years of age, carriers of the Val50Met variant

Exclusion criteria

• Patients who refuse to participate.

Trial design

57 participants in 1 patient group

Carriers of the Val50Met variant

Description:

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

Treatment:

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

Diagnostic Test: Laboratory assessments

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

Diagnostic Test: 24-Hour Holter Monitoring

Diagnostic Test: Electrocardiogram (12-lead ECG)

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

Diagnostic Test: [99mTc]Tc-DPD scintigraphy

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