Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients

NCT05075798 | Completed

• 2 other identifiers: LOCAL/2021/II-01IRB21.09.02
• Study Type: observational
• Target: 36
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (1)

• Clinical-radiological characterization

  Presence of signs of chronic bleeding on brain MRI (Yes/No)

  Baseline

Study Arms (1)

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.

Other: No intervention,

Interventions

No intervention, OTHER

pure observational study

group patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• Patients without TTR neuropathy with proven mutation, or who did not have a brain MRI.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nīmes: lead

Study Sites (1)

CHU de Nîmes

Nîmes, 30029, France

Location

Related Publications (5)

• Ikeda SI. [Cerebral amyloid angiopathy with familial transthyretin-derived oculoleptomeningeal amyloidosis]. Brain Nerve. 2013 Jul;65(7):831-42. Japanese.

  PMID: 23832986 BACKGROUND

• Vieira M, Saraiva MJ. Transthyretin: a multifaceted protein. Biomol Concepts. 2014 Mar;5(1):45-54. doi: 10.1515/bmc-2013-0038.

  PMID: 25372741 RESULT

• Maia 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.

  PMID: 25091367 RESULT

• Nakagawa 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.

  PMID: 18579156 RESULT

• Charidimou 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.

  PMID: 22056963 RESULT

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related

Study Officials

• Anissa MEGZARI

  Centre Hospitalier Universitaire de Nīmes

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 30, 2021
• First Posted: October 13, 2021
• Study Start: October 25, 2021
• Primary Completion: May 31, 2022
• Study Completion: May 31, 2022
• Last Updated: September 2, 2022

Record last verified: 2022-09

Locations

FR (1)