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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

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying 24-Hour Holter Monitoring, A complete physical examination of all body systems, including height and body weight, and others for people with hereditary amyloidosis, transthyretin-related. The study is currently recruiting participants at 2 locations. People eligible for this study include aged 20 Years and older.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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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

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NCT07124377

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