Amyloidosis in Transthyretin (TTR)NCT07213297
Comprehensive Program for Hereditary Transthyretin Amyloidosis
An observational study of Amyloidosis in Transthyretin (TTR) and Amyloidosis, Familial, run by Hospital de Alta Complejidad en Red at 1 site in Argentina.
Trial summary
The Comprehensive Program for Hereditary Transthyretin Amyloidosis describes a prospective observational study focused on understanding hereditary transthyretin amyloidosis (ATTR), a progressive and potentially fatal condition marked by amyloid fibril deposits impacting multiple organs. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial
- What is being tested?
- clinical assessments and complementary examinations
- How many people
- 20 participants
- Where
- 1 siteArgentina
- Study dates
- 1 Nov 2025to 1 Dec 2028
- How long will I take part?
- 3 Years
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis with a pathogenic variant of the TTR gene confirmed by genetic testing, whether symptomatic and/or with suspected disease progression, as well as asymptomatic carriers of these variants, will be included.
Who may be able to join
- -Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis)
Who cannot join
- wild-type TTR amyloidosis
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Argentina1 site, 1 recruiting
- Recruiting
Hospital Cuenca Alta de Cañuelas
Canuelas, Buenos Aires, 1814
Debora Nadur, MD, +5491139180350, debonadur@hotmail.com
About this study
The Comprehensive Program for Hereditary Transthyretin Amyloidosis describes a prospective observational study focused on understanding hereditary transthyretin amyloidosis (ATTR), a progressive and potentially fatal condition marked by amyloid fibril deposits impacting multiple organs. The trial aims to characterize patient phenotypes, investigate factors affecting disease progression, and identify minimum criteria for disease onset. Conducted at Néstor Kirchner Hospital, the trial enrolls participants over 18 years old with confirmed pathogenic TTR variants. It includes thorough evaluations such as genetic testing sponsored by pharmaceutical companies, clinical assessments, and diverse diagnostic tests.
- Being tested
- clinical assessments and complementary examinations
- Keywords
- transthyretin, amyloidosis, comprensive care
- Medical subject headings
- Amyloidosis, Familial, Amyloidosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
clinical assessments and complementary examinationsOther
Evaluation Plan
Comprehensive Examination: Complete medical history and physical examination of all body systems, including height and weight measurements.
Clinical Parameters: Pulse/heart rate, respiratory rate, and SpO2 will be monitored. The NYHA classification will be used to assess heart failure if applicable.
Neurological Examination: Includes motor strength testing, sensory testing (pinprick, light touch, temperature, proprioception), deep tendon reflexes, and gait assessment.
Electrocardiogram (ECG): A 12-lead ECG will be performed with the subject at rest for at least 5 minutes in a supine position.
24-hour Holter Monitoring: Conducted in cases of suspected arrhythmias or echocardiographic findings indicating arrhythmias.
Color Dosments and complementary examinations
| Study group | Role | What they receive |
|---|---|---|
| Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis | Participants with a pathogenic variant of the TTR gene confirmed by genetic testing, whether symptomatic and/or with suspected disease progression, as well as asymptomatic carriers of these variants, will be included. Individuals with wild-type TTR amyloidosis will be excluded . Receives: Other: clinical assessments and complementary examinations |
What is being measured
The primary outcome is the main question the study is designed to answer.
Phenotypic classification
- Predominantly Cardiac Phenotype: Patients will present with abnormal electrocardiograms (ECG) due to rhythm disturbances, heart failure, or dyspnea. They will exhibit no more than mild neurological or gastrointestinal (GI) symptoms. Conditions such as erectile dysfunction, constipation, and carpal tunnel syndrome will be excluded from this phenotype.
- Predominantly Neurological Phenotype: Patients will exhibit neurological or GI symptoms of any severity. They will not have abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea.
Neurological and GI symptoms will need to be continuous and definitively linked to amyloidosis.
3]) Mixed Phenotype: Patients will present with abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea.
They will also have neurological or GI symptoms of any severity. These patients will not meet the criteria for a predominantly cardiac or neurological phenotype.
Measured: 3 YEARS
Secondary outcomes (15)
Change from baseline in New York Heart Association (NYHA) functional class
Functional class assessed using the NYHA scale (range I-IV, higher class indicates worse cardiac function).
Measured: 3 years
Change from baseline in 6-Minute Walk Test (6MWT) distance
Distance walked in meters will be measured according to ATS guidelines. Lower values indicate reduced functional capacity
Measured: 3 years
Change from baseline in N-terminal pro-brain natriuretic peptide (Pro-BNP)
Serum concentration measured in pg/mL. Higher values indicate worse cardiac function.
Measured: 3 years
Change from baseline in Troponin T
Serum concentration measured in ng/L. Higher values indicate myocardial injury
Measured: 3 years
Change from baseline in Microalbuminuria
Urinary albumin excretion measured in mg/24h. Higher values indicate worse renal involvement.
Measured: 3 years
Change from baseline in Left Ventricular Ejection Fraction
Ejection fraction (%) measured by echocardiography. Lower values indicate worse cardiac function
Measured: 3 years
Change from baseline in Left Ventricular Wall Thickness
Wall thickness measured in millimeters by echocardiography. Higher values indicate worse disease progression.
Measured: 3 years
Change from baseline in diastolic dysfunction grade
Diastolic dysfunction assessed by echocardiography following ASE guidelines. Higher grade indicates worse dysfunction.
Measured: 3 years
Incidence of atrial fibrillation, atrioventricular block, or PR interval prolongation
Presence of atrial fibrillation, new AV block, or PR interval prolongation assessed by ECG. Categorical outcome (Yes/No).
Measured: 3 years
Change from baseline in Coutinho/PND (Polyneuropathy Disability) score
Score range 0-IV; higher score indicates greater disability
Measured: 3 years
Change from baseline in Neuropathy Impairment Score (NIS)
Total score range 0-244; higher values indicate worse neuropathy.
Measured: 3 years
Change from baseline in COMPASS-31 total score
Questionnaire score range 0-100; higher values indicate worse autonomic symptoms.
Measured: 3 years
Change from baseline in Norfolk QoL-DN score
Total score range -4 to 136; higher values indicate worse quality of life related to neuropathy.
Measured: 3 years
Change from baseline in RODS (Rasch-built Overall Disability Scale)
Score range 0-48; lower values indicate greater disability
Measured: 3 years
Change from baseline in Body Mass Index (BMI)
BMI calculated as weight (kg)/height (m²). Both weight and height will be measured and aggregated to report BMI. Higher or lower values may reflect disease progression.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Oct 2025
- Study start1 Nov 2025
- Primary completion1 Nov 2028 (estimated)
- Study completion1 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Amyloidosis in Transthyretin (TTR)Studies 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
- 20 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Hospital de Alta Complejidad en Red
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Gisela Mariel Zanga, Hospital de Alta Complejidad en Red
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07213297
- Sponsor's protocol ID
- ESCAN
- Status last verified
- Mar 2026
- First submitted
- 5 Sep 2025
- Last updated
- 24 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Pinto MV, Barreira AA, Bulle AS, Freitas MRG, Franca MC Jr, Gondim FAA, Marrone CD, Marques W Jr, Nascimento OJM, Rotta FT, Pupe C, Waddington-Cruz M. Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. Arq Neuropsiquiatr. 2018 Sep;76(9):609-621. doi: 10.1590/0004-282X20180094.
PubMed 30365625
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Comprehensive Program for Hereditary Transthyretin Amyloidosis
- ClinicalTrials.gov ID
- NCT07213297
- Acronym / sponsor ID
- ESCAN
- Keywords
- transthyretin, amyloidosis, comprensive care
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Hospital de Alta Complejidad en RedUniversity, hospital or other
- Study start
- 1 Nov 2025 (actual)
- Primary completion
- 1 Nov 2028 (estimated)
- Study completion
- 1 Dec 2028 (estimated)
- First posted
- 8 Oct 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.
The Comprehensive Program for Hereditary Transthyretin Amyloidosis describes a prospective observational study focused on understanding hereditary transthyretin amyloidosis (ATTR), a progressive and potentially fatal condition marked by amyloid fibril deposits impacting multiple organs. The trial aims to characterize patient phenotypes, investigate factors affecting disease progression, and identify minimum criteria for disease onset. Conducted at Néstor Kirchner Hospital, the trial enrolls participants over 18 years old with confirmed pathogenic TTR variants. It includes thorough evaluations such as genetic testing sponsored by pharmaceutical companies, clinical assessments, and diverse diagnostic tests.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis | – | Other: clinical assessments and complementary examinationsParticipants with a pathogenic variant of the TTR gene confirmed by genetic testing, whether symptomatic and/or with suspected disease progression, as well as asymptomatic carriers of these variants, will be included. Individuals with wild-type TTR amyloidosis will be excluded . |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis with a pathogenic variant of the TTR gene confirmed by genetic testing, whether symptomatic and/or with suspected disease progression, as well as asymptomatic carriers of these variants, will be included.
Key inclusion criteria (1 listed)
- -Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis)
Key exclusion criteria (1 listed)
- wild-type TTR amyloidosis
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 |
|---|---|---|
| clinical assessments and complementary examinationsEvaluation Plan Comprehensive Examination: Complete medical history and physical examination of all body systems, including height and weight measurements. Clinical Parameters: Pulse/heart rate, respiratory rate, and SpO2 will be monitored. The NYHA classification will be used to assess heart failure if applicable. Neurological Examination: Includes motor strength testing, sensory testing (pinprick, light touch, temperature, proprioception), deep tendon reflexes, and gait assessment. Electrocardiogram (ECG): A 12-lead ECG will be performed with the subject at rest for at least 5 minutes in a supine position. 24-hour Holter Monitoring: Conducted in cases of suspected arrhythmias or echocardiographic findings indicating arrhythmias. Color Dosments and complementary examinations | Other | Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis |
Primary outcome
Phenotypic classification
Time frame: 3 YEARS
1. Predominantly Cardiac Phenotype: Patients will present with abnormal electrocardiograms (ECG) due to rhythm disturbances, heart failure, or dyspnea. They will exhibit no more than mild neurological or gastrointestinal (GI) symptoms. Conditions such as erectile dysfunction, constipation, and carpal tunnel syndrome will be excluded from this phenotype. 2. Predominantly Neurological Phenotype: Patients will exhibit neurological or GI symptoms of any severity. They will not have abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea. Neurological and GI symptoms will need to be continuous and definitively linked to amyloidosis. 3]) Mixed Phenotype: Patients will present with abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea. They will also have neurological or GI symptoms of any severity. These patients will not meet the criteria for a predominantly cardiac or neurological phenotype.
15 secondary outcomes
Change from baseline in New York Heart Association (NYHA) functional class
Time frame: 3 years
Change from baseline in 6-Minute Walk Test (6MWT) distance
Time frame: 3 years
Change from baseline in N-terminal pro-brain natriuretic peptide (Pro-BNP)
Time frame: 3 years
Change from baseline in Troponin T
Time frame: 3 years
Change from baseline in Microalbuminuria
Time frame: 3 years
Change from baseline in Left Ventricular Ejection Fraction
Time frame: 3 years
Change from baseline in Left Ventricular Wall Thickness
Time frame: 3 years
Change from baseline in diastolic dysfunction grade
Time frame: 3 years
Incidence of atrial fibrillation, atrioventricular block, or PR interval prolongation
Time frame: 3 years
Change from baseline in Coutinho/PND (Polyneuropathy Disability) score
Time frame: 3 years
Change from baseline in Neuropathy Impairment Score (NIS)
Time frame: 3 years
Change from baseline in COMPASS-31 total score
Time frame: 3 years
Change from baseline in Norfolk QoL-DN score
Time frame: 3 years
Change from baseline in RODS (Rasch-built Overall Disability Scale)
Time frame: 3 years
Change from baseline in Body Mass Index (BMI)
Time frame: 3 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 24 Mar 2026.
- Background: PubMed 30365625Pinto MV, Barreira AA, Bulle AS, Freitas MRG, Franca MC Jr, Gondim FAA, Marrone CD, Marques W Jr, Nascimento OJM, Rotta FT, Pupe C, Waddington-Cruz M. Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. Arq Neuropsiquiatr. 2018 Sep;76(9):609-621. doi: 10.1590/0004-282X20180094.
- Individual participant dataSharing planned: Undecided
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Not yet recruitingPhase 3
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RecruitingObservational study
Determining the Association of TTR Stabilizing Therapy With Circulating TTR Amyloid Aggregates Over Time in Patients With ATTR-CM: Longitudinal Biomarker Study
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Amyloidosis in Transthyretin (TTR) and Amyloidosis, Familial, run by Hospital de Alta Complejidad en Red at 1 site 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 24 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Gisela Zanga, MD (+5491156074899, gzanga84@hotmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phenotypic classification (time frame: 3 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 NCT07213297, which also lists 1 linked publication.
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 24 Mar 2026; AzTrials last refreshed its copy on 26 Oct 2026.