AmyloidosisNCT05754099
Identification of Clinically Significant Markers of ATTRv in Pre-symptomatic Mutation Carriers.
An observational study of Amyloidosis, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through instrumental methods and clinical scales in order to identify the first signs of clinically… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Amyloidosis
- How many people
- 20 participants
- Where
- 1 siteItaly
- Study dates
- 1 Mar 2022to 30 Nov 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Child, Adult, Older adult
Study population: Data from pre-symptomatic carriers who have signed the written informed consent, in regular follow-up at the Centres, will be included in the study. Carriers recruited should be no less than 10 years of age compared to the age of onset of the affected relative with the youngest age of onset or should have a history of bilateral carpal tunnel syndrome undergoing surgery.
Who may be able to join
- Pre-symptomatic carriers of TTR mutation in regular follow-up at the Centres.
- Signature of the written informed consent.
- Age not less than 10 years compared to the age of onset of the relative with the youngest age of onset and/or a history of bilateral carpal tunnel syndrome undergoing surgery.
Who cannot join
- Other causes of neuropathies (diabetes; MGUS; alcoholism; vitamin deficiency).
- Other causes of hypertrophic heart disease.
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Flavia Torlizzi
Roma, 00168
Flavia Torlizzi, +390630156433, flavia.torlizzi@policlinicogemelli.it
About this study
Official title: Identification of Clinically Significant Markers of Hereditary Transthyretin Amyloidosis (TTR) in Pre-symptomatic Mutation Carriers: a Prospective Longitudinal Multicentre Study
The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through instrumental methods and clinical scales in order to identify the first signs of clinically significant organ involvement by the disease. Healthy asymptomatic carriers will be subjected to regular monitoring through clinical evaluations and instrumental investigations defined by the consensus group (Conceicao et al.) in order to validate the criteria defined by this group to define the onset of the disease. A subgroup of carriers with scales and instrumental tests negative for damage to the peripheral nervous system or cardiac, but with subjective symptoms compatible with the disease, will be subjected to further instrumental tests not indicated by consent.
- Conditions
- Amyloidosis
- Medical subject headings
- Amyloidosis
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of a cohort of pre-symptomatic subjects carrying a TTR mutation
To evaluate in a cohort of pre-symptomatic subjects carrying a TTR mutation the disease onset according to the European consensus criteria (Conceicao et al.).
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 posted3 Mar 2023
- Study start1 Mar 2022
- Primary completion1 Dec 2023 (estimated)
- Study completion30 Nov 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AmyloidosisStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- 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
- Other
- Time perspective
- Prospective
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05754099
- Sponsor's protocol ID
- 4108
- Status last verified
- Feb 2023
- First submitted
- 22 Feb 2023
- Last updated
- 31 Mar 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Clinically Significant Markers of Hereditary Transthyretin Amyloidosis (TTR) in Pre-symptomatic Mutation Carriers: a Prospective Longitudinal Multicentre Study
- ClinicalTrials.gov ID
- NCT05754099
- Acronym / sponsor ID
- 4108
- Conditions
- Amyloidosis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 1 Mar 2022 (actual)
- Primary completion
- 1 Dec 2023 (estimated)
- Study completion
- 30 Nov 2024 (estimated)
- First posted
- 3 Mar 2023 (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 objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through instrumental methods and clinical scales in order to identify the first signs of clinically significant organ involvement by the disease. Healthy asymptomatic carriers will be subjected to regular monitoring through clinical evaluations and instrumental investigations defined by the consensus group (Conceicao et al.) in order to validate the criteria defined by this group to define the onset of the disease. A subgroup of carriers with scales and instrumental tests negative for damage to the peripheral nervous system or cardiac, but with subjective symptoms compatible with the disease, will be subjected to further instrumental tests not indicated by consent.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Data from pre-symptomatic carriers who have signed the written informed consent, in regular follow-up at the Centres, will be included in the study. Carriers recruited should be no less than 10 years of age compared to the age of onset of the affected relative with the youngest age of onset or should have a history of bilateral carpal tunnel syndrome undergoing surgery.
Key inclusion criteria (3 listed)
- Pre-symptomatic carriers of TTR mutation in regular follow-up at the Centres.
- Signature of the written informed consent.
- Age not less than 10 years compared to the age of onset of the relative with the youngest age of onset and/or a history of bilateral carpal tunnel syndrome undergoing surgery.
Key exclusion criteria (2 listed)
- Other causes of neuropathies (diabetes; MGUS; alcoholism; vitamin deficiency).
- Other causes of hypertrophic heart disease.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Evaluation of a cohort of pre-symptomatic subjects carrying a TTR mutation
Time frame: 3 years
To evaluate in a cohort of pre-symptomatic subjects carrying a TTR mutation the disease onset according to the European consensus criteria (Conceicao et al.).
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Mar 2023.
Related trials for Amyloidosis
Not yet recruiting
Acupressure as Long-term Intervention to Slow the Progression of Early/Mild Alzheimer's Disease
Alzheimer's Disease
Active, not recruitingPhase 2
A Study to Evaluate the Safety and Biomarker Effects of RO7269162 in Participants at Risk for or at the Prodromal Stage of Alzheimer's Disease (AD)
Alzheimer's Disease
Active, not recruitingObservational study
A Retrospective Observational Study of Epidemiology and Outcomes in Transthyretin Amyloid Cardiomyopathy in Germany
ATTR-CM (Transthyretin Amyloid Cardiomyopathy)
Active, not recruitingPhase 3
EPIC-ATTR: A Study to Evaluate the Effect of Eplontersen on the Transthyretin Reduction and Long-term Safety in Chinese Subjects With Transthyretin Amyloid Cardiomyopathy
Transthyretin Amyloid Cardiomyopathy
RecruitingObservational study
PET Imaging in the Baltimore Longitudinal Study of Aging (BLSA)
Aging
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. This study is not recruiting at the moment.
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, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
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 3 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 31 Mar 2023. 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 Italy. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Marco Luigetti, MD (0630154303, marco.luigetti@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of a cohort of pre-symptomatic subjects carrying a TTR mutation (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 31 Mar 2023.