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Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients

NCT05075798 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 36

Last updated 2022-09-02

No results posted yet for this study

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.

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.

Conditions

  • Transthyretin Amyloidosis

Interventions

OTHER

No intervention,

pure observational study

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Nīmes

    lead OTHER

Principal Investigators

  • Anissa MEGZARI · Centre Hospitalier Universitaire de Nīmes

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-10-25
Primary Completion
2022-05-31
Completion
2022-05-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05075798 on ClinicalTrials.gov