Transthyretin AmyloidosisTTR-SNCNCT05075798
Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients
An observational study of Transthyretin Amyloidosis, run by Centre Hospitalier Universitaire de Nīmes at 1 site in France.
Trial summary
Transthyretin amyloidosis (aTTR) initially described as a rare disease, became the most serious hereditary polyneuropathy of adult onset and family screening has made it possible to identify and follow up many asymptomatic patients and carriers of the mutation in the TTR gene. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Transthyretin Amyloidosis
- How many people
- 36 participants
- Where
- 1 siteFrance
- Study dates
- 25 Oct 2021to 31 May 2022
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients followed at the University Hospital of Nîmes between 2017 and 2021 for a TTR neuropathy with proven mutation, having benefited from a brain MRI.
Who may be able to join
- patients followed at the University Hospital of Nîmes between 2017 and 2021 for a TTR neuropathy with proven mutation, having benefited from a brain MRI.
Who cannot join
- Patients without TTR neuropathy with proven mutation, or who did not have a brain MRI.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Comprehensive Retrospective Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients
Transthyretin amyloidosis (aTTR) initially described as a rare disease, became the most serious hereditary polyneuropathy of adult onset and family screening has made it possible to identify and follow up many asymptomatic patients and carriers of the mutation in the TTR gene.
Considered as a systemic disease with involvement of target organs (the heart, the eye, the kidney and peripheral nervous system), it seems to be more complex for neurologists according to recent publications raising the issue of central nervous system involvement.
Read more
Indeed, TTR amyloid deposits seem to be correlated with the duration of the disease. These deposits can cause cortical damage by different mechanisms: direct TTR toxicity or as a result of pathology related to cerebral amyloid angiopathy (intraparenchymal or subarachnoid hematomas, small infarcts, hemosiderin). A small number of mutations in the TTR gene cause a rare phenotype of systemic amyloidosis, the oculoleptomeningeal form, characterized by clinical neurological symptoms: progressive dementia, epilepsy, ataxia, spastic paraparesis, stroke-like episodes.
Hypothesis of the work: the central nervous system involvement is probably underestimated on the radiological description in patients with TTR mutation.
- Conditions
- Transthyretin Amyloidosis
- Being tested
- No intervention,
- 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.
No intervention,Other
pure observational study
| Study group | Role | What they receive |
|---|---|---|
| group patients | Patients followed at the University Hospital of Nîmes between 2017 and 2021 for a TTR neuropathy with proven mutation, having benefited from a brain MRI. Receives: Other: No intervention, |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical-radiological characterization
Presence of signs of chronic bleeding on brain MRI (Yes/No)
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Oct 2021
- Study start25 Oct 2021
- Primary completion31 May 2022
- Study completion31 May 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Transthyretin AmyloidosisStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NīmesThe 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 36 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nīmes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Anissa MEGZARI, Study director, Centre Hospitalier Universitaire de Nīmes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05075798
- Sponsor's protocol ID
- LOCAL/2021/II-01
- Other IDs
- IRB21.09.02
- Acronym
- TTR-SNC
- Status last verified
- Sep 2022
- First submitted
- 30 Sep 2021
- Last updated
- 2 Sep 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Ikeda SI. [Cerebral amyloid angiopathy with familial transthyretin-derived oculoleptomeningeal amyloidosis]. Brain Nerve. 2013 Jul;65(7):831-42. Japanese.
PubMed 23832986Vieira M, Saraiva MJ. Transthyretin: a multifaceted protein. Biomol Concepts. 2014 Mar;5(1):45-54. doi: 10.1515/bmc-2013-0038.
PubMed 25372741Maia LF, Magalhaes R, Freitas J, Taipa R, Pires MM, Osorio H, Dias D, Pessegueiro H, Correia M, Coelho T. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry. 2015 Feb;86(2):159-67. doi: 10.1136/jnnp-2014-308107. Epub 2014 Aug 4.
PubMed 25091367Nakagawa K, Sheikh SI, Snuderl M, Frosch MP, Greenberg SM. A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis. J Neurol Sci. 2008 Sep 15;272(1-2):186-90. doi: 10.1016/j.jns.2008.05.014. Epub 2008 Jun 24.
PubMed 18579156Charidimou A, Gang Q, Werring DJ. Sporadic cerebral amyloid angiopathy revisited: recent insights into pathophysiology and clinical spectrum. J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):124-37. doi: 10.1136/jnnp-2011-301308. Epub 2011 Nov 5.
PubMed 22056963
Study at a glance
From the registry record, last updated by the sponsor on 2 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Comprehensive Retrospective Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients
- ClinicalTrials.gov ID
- NCT05075798
- Acronym / sponsor ID
- TTR-SNC / LOCAL/2021/II-01
- Conditions
- Transthyretin Amyloidosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 36 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NīmesUniversity, hospital or other
- Study start
- 25 Oct 2021 (actual)
- Primary completion
- 31 May 2022 (actual)
- Study completion
- 31 May 2022 (actual)
- First posted
- 13 Oct 2021 (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.
Transthyretin amyloidosis (aTTR) initially described as a rare disease, became the most serious hereditary polyneuropathy of adult onset and family screening has made it possible to identify and follow up many asymptomatic patients and carriers of the mutation in the TTR gene.
Considered as a systemic disease with involvement of target organs (the heart, the eye, the kidney and peripheral nervous system), it seems to be more complex for neurologists according to recent publications raising the issue of central nervous system involvement.
Indeed, TTR amyloid deposits seem to be correlated with the duration of the disease. These deposits can cause cortical damage by different mechanisms: direct TTR toxicity or as a result of pathology related to cerebral amyloid angiopathy (intraparenchymal or subarachnoid hematomas, small infarcts, hemosiderin). A small number of mutations in the TTR gene cause a rare phenotype of systemic amyloidosis, the oculoleptomeningeal form, characterized by clinical neurological symptoms: progressive dementia, epilepsy, ataxia, spastic paraparesis, stroke-like episodes.
Hypothesis of the work: the central nervous system involvement is probably underestimated on the radiological description in patients with TTR mutation.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| group patients | – | Other: No intervention,Patients followed at the University Hospital of Nîmes between 2017 and 2021 for a TTR neuropathy with proven mutation, having benefited from a brain MRI. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients followed at the University Hospital of Nîmes between 2017 and 2021 for a TTR neuropathy with proven mutation, having benefited from a brain MRI.
Key inclusion criteria (1 listed)
- patients followed at the University Hospital of Nîmes between 2017 and 2021 for a TTR neuropathy with proven mutation, having benefited from a brain MRI.
Key exclusion criteria (1 listed)
- Patients without TTR neuropathy with proven mutation, or who did not have a brain MRI.
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 |
|---|---|---|
| No intervention,pure observational study | Other | group patients |
Primary outcome
Clinical-radiological characterization
Time frame: Baseline
Presence of signs of chronic bleeding on brain MRI (Yes/No)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Sep 2022.
- Background: PubMed 23832986Ikeda SI. [Cerebral amyloid angiopathy with familial transthyretin-derived oculoleptomeningeal amyloidosis]. Brain Nerve. 2013 Jul;65(7):831-42. Japanese.
- Results publication: PubMed 25372741Vieira M, Saraiva MJ. Transthyretin: a multifaceted protein. Biomol Concepts. 2014 Mar;5(1):45-54. doi: 10.1515/bmc-2013-0038.
- Results publication: PubMed 25091367Maia LF, Magalhaes R, Freitas J, Taipa R, Pires MM, Osorio H, Dias D, Pessegueiro H, Correia M, Coelho T. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry. 2015 Feb;86(2):159-67. doi: 10.1136/jnnp-2014-308107. Epub 2014 Aug 4.
- Results publication: PubMed 18579156Nakagawa K, Sheikh SI, Snuderl M, Frosch MP, Greenberg SM. A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis. J Neurol Sci. 2008 Sep 15;272(1-2):186-90. doi: 10.1016/j.jns.2008.05.014. Epub 2008 Jun 24.
- Results publication: PubMed 22056963Charidimou A, Gang Q, Werring DJ. Sporadic cerebral amyloid angiopathy revisited: recent insights into pathophysiology and clinical spectrum. J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):124-37. doi: 10.1136/jnnp-2011-301308. Epub 2011 Nov 5.
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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. This study is not recruiting at the moment.
Anissa MEGZARI study director
Centre Hospitalier Universitaire de Nīmes
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 Transthyretin Amyloidosis, run by Centre Hospitalier Universitaire de Nīmes at 1 site in France.
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: finished, as of the sponsor's last update on 2 Sep 2022. 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 France. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical-radiological characterization (time frame: Baseline). 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 NCT05075798, which also lists 5 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 Sep 2022.