Hereditary Amyloidosis, Transthyretin-RelatedNCT07124377
Phenotypic Manifestations of Hereditary ATTR Amyloidosis
An observational study of Hereditary Amyloidosis, Transthyretin-Related, run by Hospital 9 de Julio de Las Breñas at 2 sites in Argentina.
Trial summary
This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea Read more about this study
- Who is it for?
- Ages 20 years and older
- Conditions the study is for
- Hereditary Amyloidosis, Transthyretin-Related
- What is being tested?
- A complete physical examination of all body systems, including height and body weight, Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment. and Electrocardiogram (12-lead ECG)
- How many people
- 57 participants
- Where
- 2 sitesArgentina
- Study dates
- 1 Sep 2024to 1 Mar 2027
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: All subjects between 20 and 70 years of age, carriers of the Val50Met variant from August 1st ,2024 to December 30st, 2025, belonging to a cluster of hereditary Transthyretin Amyloidosis will be included
Who may be able to join
- All subjects between 20 and 70 years of age, carriers of the Val50Met variant
Who cannot join
- Patients who refuse to participate.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Argentina2 sites, 2 recruiting
- Enrolling by invitation
Hospital las Breñas 9 de Julio
Charata, Chaco Province, 6300
- Recruiting
Hosptial Las Breñas
Charata, Chaco Province
About this study
Official title: Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study
This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea
Read the 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.
- Being tested
- A complete physical examination of all body systems, including height and body weight, Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment., Electrocardiogram (12-lead ECG), 24-Hour Holter Monitoring, Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain)
- Keywords
- hATTR, Non Endemic Area
- Medical subject headings
- Amyloidosis, Hereditary, Transthyretin-Related
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
A complete physical examination of all body systems, including height and body weightOther
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.Other
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Electrocardiogram (12-lead ECG)Diagnostic test
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
24-Hour Holter MonitoringDiagnostic test
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)Diagnostic test
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)Other
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)Other
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
COMPASS-31 (Composite Autonomic Symptom Score-31)Other
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Electromyogram (EMG)Diagnostic test
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
[99mTc]Tc-DPD scintigraphyDiagnostic test
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Laboratory assessmentsDiagnostic test
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
| Study group | Role | What they receive |
|---|---|---|
| Carriers of the Val50Met variant | Patients with positive genetic test for patogenic variant of the TTR gene Receives: Other: A complete physical examination of all body systems, including height and body weight; Other: Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.; Diagnostic Test: Electrocardiogram (12-lead ECG); Diagnostic Test: 24-Hour Holter Monitoring; Diagnostic Test: Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain); Other: The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN); 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: [99mTc]Tc-DPD scintigraphy; Diagnostic Test: Laboratory assessments |
What is being measured
The primary outcome is the main question the study is designed to answer.
Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population.
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.
Measured: 2 years
Secondary outcomes (1)
Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic.
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Aug 2025
- Study start1 Sep 2024
- Primary completion30 Dec 2026 (estimated)
- Study completion1 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Hereditary Amyloidosis, Transthyretin-RelatedStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 57 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Hospital 9 de Julio de Las Breñas
- Sponsor type
- Other government
- Collaborators
- Instituto de Cardiología de Corrientes
- Responsible party
- Principal investigator, Mauricio Tomei, Hospital 9 de Julio de Las Breñas
- Investigators
- Mauricio MT Tomei, MD, Principal investigator, Hospital 9 de Julio de Las Breñas
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07124377
- Sponsor's protocol ID
- hATTR Chaco Cluster
- Status last verified
- Mar 2026
- First submitted
- 1 Aug 2025
- Last updated
- 2 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Saez MS, Aguirre MA, Perez de Arenaza D, Sorroche P, Nucifora E, Posadas Martinez ML. Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina. Mol Genet Genomic Med. 2021 Nov;9(11):e1812. doi: 10.1002/mgg3.1812. Epub 2021 Oct 20.
PubMed 34668655Conceicao I, Damy T, Romero M, Galan L, Attarian S, Luigetti M, Sadeh M, Sarafov S, Tournev I, Ueda M. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid. 2019 Mar;26(1):3-9. doi: 10.1080/13506129.2018.1556156. Epub 2019 Feb 22.
PubMed 30793974Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Heart Fail. 2019 Sep;12(9):e006075. doi: 10.1161/CIRCHEARTFAILURE.119.006075. Epub 2019 Sep 4.
PubMed 31480867Gentile L, Coelho T, Dispenzieri A, Conceicao I, Waddington-Cruz M, Kristen A, Wixner J, Diemberger I, Gonzalez-Moreno J, Cariou E, Maurer MS, Plante-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Duarte AG, Grogan M, Mazzeo A, Chapman D, Gupta P, Glass O, Amass L; THAOS investigators. A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet J Rare Dis. 2023 Nov 10;18(1):350. doi: 10.1186/s13023-023-02962-5.
PubMed 37946256
Study at a glance
From the registry record, last updated by the sponsor on 2 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study
- ClinicalTrials.gov ID
- NCT07124377
- Acronym / sponsor ID
- hATTR Chaco Cluster
- Keywords
- hATTR, Non Endemic Area
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 57 participants (estimated)
- Lead sponsor
- Hospital 9 de Julio de Las BreñasOther government
- Collaborators
- Instituto de Cardiología de Corrientes
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- 30 Dec 2026 (estimated)
- Study completion
- 1 Mar 2027 (estimated)
- First posted
- 15 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 1 Year
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Carriers of the Val50Met variant | – | Other: A complete physical examination of all body systems, including height and body weight, Other: Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment., Diagnostic Test: Electrocardiogram (12-lead ECG), Diagnostic Test: 24-Hour Holter Monitoring, Diagnostic Test: Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain), Other: The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN), 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: [99mTc]Tc-DPD scintigraphy, Diagnostic Test: Laboratory assessmentsPatients with positive genetic test for patogenic variant of the TTR gene |
Who may qualify
- Ages
- 20 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All subjects between 20 and 70 years of age, carriers of the Val50Met variant from August 1st ,2024 to December 30st, 2025, belonging to a cluster of hereditary Transthyretin Amyloidosis will be included
Key inclusion criteria (1 listed)
- All subjects between 20 and 70 years of age, carriers of the Val50Met variant
Key exclusion criteria (1 listed)
- Patients who refuse to participate.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| A complete physical examination of all body systems, including height and body weightThese interventions will be carried out in a time-controlled population within a family cluster of VAL50MET | Other | Carriers of the Val50Met variant |
| 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 | Other | Carriers of the Val50Met variant |
| Electrocardiogram (12-lead ECG)These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET | Diagnostic test | Carriers of the Val50Met variant |
| 24-Hour Holter MonitoringThese interventions will be carried out in a time-controlled population within a family cluster of VAL50MET | Diagnostic test | Carriers of the Val50Met variant |
| 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 | Diagnostic test | Carriers of the Val50Met variant |
| 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 | Other | Carriers of the Val50Met variant |
| 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 | Other | Carriers of the Val50Met variant |
| COMPASS-31 (Composite Autonomic Symptom Score-31)These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET | Other | Carriers of the Val50Met variant |
| Electromyogram (EMG)These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET | Diagnostic test | Carriers of the Val50Met variant |
| [99mTc]Tc-DPD scintigraphyThese interventions will be carried out in a time-controlled population within a family cluster of VAL50MET | Diagnostic test | Carriers of the Val50Met variant |
| Laboratory assessmentsLaboratory 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 | Diagnostic test | Carriers of the Val50Met variant |
Primary outcome
Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population.
Time frame: 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.
1 secondary outcome
Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic.
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Apr 2026.
- Background: PubMed 34668655Saez MS, Aguirre MA, Perez de Arenaza D, Sorroche P, Nucifora E, Posadas Martinez ML. Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina. Mol Genet Genomic Med. 2021 Nov;9(11):e1812. doi: 10.1002/mgg3.1812. Epub 2021 Oct 20.
- Background: PubMed 30793974Conceicao I, Damy T, Romero M, Galan L, Attarian S, Luigetti M, Sadeh M, Sarafov S, Tournev I, Ueda M. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid. 2019 Mar;26(1):3-9. doi: 10.1080/13506129.2018.1556156. Epub 2019 Feb 22.
- Background: PubMed 31480867Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Heart Fail. 2019 Sep;12(9):e006075. doi: 10.1161/CIRCHEARTFAILURE.119.006075. Epub 2019 Sep 4.
- Background: PubMed 37946256Gentile L, Coelho T, Dispenzieri A, Conceicao I, Waddington-Cruz M, Kristen A, Wixner J, Diemberger I, Gonzalez-Moreno J, Cariou E, Maurer MS, Plante-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Duarte AG, Grogan M, Mazzeo A, Chapman D, Gupta P, Glass O, Amass L; THAOS investigators. A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet J Rare Dis. 2023 Nov 10;18(1):350. doi: 10.1186/s13023-023-02962-5.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mauricio MT Tomei, MD principal investigator
Hospital 9 de Julio de Las Breñas
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Amyloidosis, Transthyretin-Related, run by Hospital 9 de Julio de Las Breñas at 2 sites in Argentina.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Argentina. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mauricio MT TOMEI, MD (+5493731558832, mht10@hotmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population. (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07124377, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Apr 2026.