Phenotypic Manifestations of Hereditary ATTR Amyloidosis
Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study
About This Trial
This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea
Who May Be Eligible (Plain English)
Original Eligibility Criteria
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Treatments Being Tested
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
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
Electrocardiogram (12-lead ECG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
24-Hour Holter Monitoring
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
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
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
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
COMPASS-31 (Composite Autonomic Symptom Score-31)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Electromyogram (EMG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
[99mTc]Tc-DPD scintigraphy
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
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