ClinicalTrialsFinder
RecruitingNCT07124377

Phenotypic Manifestations of Hereditary ATTR Amyloidosis

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

Sponsor

Hospital 9 de Julio de Las Breñas

Enrollment

57 participants

Start Date

Sep 1, 2024

Study Type

OBSERVATIONAL

Conditions

Hereditary Amyloidosis, Transthyretin-Related

Summary

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

Eligibility

Min Age: 20 Years

Inclusion Criteria1

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

Exclusion Criteria1

  • Patients who refuse to participate.
Print for Your Doctor

Interested in this trial?

Get notified about updates and connect with the research team.

Interventions

OTHERA 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

OTHERNeurological 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_TESTElectrocardiogram (12-lead ECG)

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

DIAGNOSTIC_TEST24-Hour Holter Monitoring

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

DIAGNOSTIC_TESTColor 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

OTHERThe 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

OTHERquestionnaire, 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

OTHERCOMPASS-31 (Composite Autonomic Symptom Score-31)

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

DIAGNOSTIC_TESTElectromyogram (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_TESTLaboratory 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

Locations(2)

Hospital las Breñas 9 de Julio

Charata, Chaco Province, Argentina

Hosptial Las Breñas

Charata, Chaco Province, Argentina

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

Visit

NCT07124377

Related Trials

Observational Study of Neurofilament Light Chain (NfL) as a Biomarker in Asymptomatic Carriers of the Transthyretin (TTR) Variants and Patients With Hereditary Transthyretin-mediated (hATTR) Amyloidosis With Polyneuropathy

NCT063602891 location