Hereditary Amyloidosis, Transthyretin-Related
Conditions
Keywords
hATTR, Non Endemic Area
Brief 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.
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
Sponsors
Hospital 9 de Julio de Las Breñas
Instituto de Cardiología de Corrientes
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
20 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* All subjects between 20 and 70 years of age, carriers of the Val50Met variant
Exclusion criteria
* Patients who refuse to participate.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population. | 2 years | The predominantly cardiac phenotype includes patients with abnormal ECG due to rhythm disturbance, heart failure, or dyspnea, minimal neurologic or GI symptoms, and diagnostic findings such as interventricular septum hypertrophy (\>12 mm), Holter monitoring, and \[99mTc\]Tc-DPD scintigraphy (Peugerini Score 1-3). The predominantly neurologic phenotype features patients with ongoing neurologic or GI symptoms definitively linked to ATTR amyloidosis, without abnormal ECG findings. Key assessments include autonomic neuropathy (orthostatic hypotension, sexual dysfunction), EMG, Norfolk QoL-DN (-4-246), COMPASS-31 (0-100), and NIS-LL (0-88). The mixed phenotype includes patients with abnormal ECG and neurologic or GI symptoms of any severity, failing to meet criteria for predominantly cardiac or neurologic phenotypes. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic. | 2 years | Minimum criteria for disease onset include: (1) one quantified symptom or sign definitively related to the disease, such as sensorimotor neuropathy, autonomic neuropathy, cardiac involvement, or renal/ocular involvement; (2) any symptom probably related with one abnormal test finding; or (3) absence of symptoms with two abnormal test findings. |
Countries
Argentina
Contacts
CONTACTMauricio MT TOMEI, MD
PRINCIPAL_INVESTIGATORMauricio MT Tomei, MD
Hospital 9 de Julio de Las Breñas
Outcome results
None listed