Active clinical trials for "Amyloidosis"

Amyloidosis is involved in many rare diseases in relation to the diversity of amyloid proteins involved in the formation of abnormal tissue deposits. There are approximately 30 proteins involved in amylose's constitution. The therapeutic management varies depending on the type of amyloidosis observed. The application of conventional techniques immunolabeling of amylose does not allow the comprehensive characterization of amylose forms, due to failures of the technic, the false positivity of some results, or lack of frozen tissue available for typing light chain (lambda, kappa). In this study, the main objective is the comparison of two capacity of amylose characterisation: immunohistochemistry and proteomics analysis. The purpose of this study is to validate the superiority of proteomic analysis by demonstrating the improvement of the precision, the reduction of technical failure, as well as the correction of erroneous diagnosis, authorizing a more adapted therapeutic management.

The diagnosis of Alzheimer's disease (AD) is based on clinical and neuropathological criteria. Some patients have a contributive CSF biology to determinate a high level risk of AD (Tau + phospho-tau ratio increased and Ab42 / decreased Aβ40), but others have an intermediate CSF biology (Tau and/or phospho-tau increased but Ab42 ratio / normal Aβ40) and are unclassifiable. 18F-Florbetaben (Neuraceq®), a radioisotope in positron emission tomography (PET), selectively binds to amyloid plaques, with high detection sensitivity (98%). Detection of amyloid plaques by PET imaging separate patients according to the criteria of Dubois, as with AD and allow them to benefit a cholinesterase inhibitor treatment. If negative, the diagnosis of AD can be excluded with a high level of confidence to prevent initiating unnecessary treatment, expensive for the community. This is the first imaging study of amyloid plaques targeting population whose diagnosis of AD is uncertain according to the CSF biology. The aim of this study is to describe the results of amyloid PET in case of intermediate CSF biology and to separate patients as AD or not according to the criteria of Dubois

To estimate the prevalence of transthyretin cardiac amyloidosis (TTR-CA) among Heart Failure with Preserved Ejection Fraction (HFpEF) patients with increased LV wall thickness in Southeast Minnesota using 99mTc-PYP single-photon positive emission computed tomography with computed tomography (SPECT/CT).

The frequency of cardiac amyloidosis among patients presenting with a so-called left ventricular hypertrophy remains unknown. This problem is especially relevant in the Caribbean's, where an amyloidosis-prone mutation of transthyretin gene might be frequent.

According to the most popular pathophysiological models of Alzheimer's disease, the amyloid hypothesis, amyloid deposition is the causative event triggering a chain of other downstream events which finally lead to Alzheimer's disease and dementia. In mouse models of Alzheimer's disease, 40 Hz multi-sensory (auditory and visual) stimulation was able to reduce the number and size of amyloid plaques throughout cortex and improve cognitive performance. The primary objective of this study is to assess whether an intervention consisting of 40 Hz multi-sensory (auditory and visual) stimulation is able to reduce the amyloid load in non-demented amyloid-positive individuals. As secondary objectives, the investigators will assess whether such intervention is able to: improve the brain electrical activity, improve or slow down the worsening of Alzheimer's blood-based biomarkers, improve or slow down the worsening of cognition.

The purpose of the study is to determine the capability of a radiolabeled amyloid-reactive monoclonal antibody to document the presence and distribution of amyloid deposits by PET/CT imaging in patients with AL amyloidosis.

The primary aim of this study is to compare regional amyloid burden in Parkinson's disease (PD) to normal control subjects. We hypothesize that there will be significant differences in overall amyloid burden in PD patients compared to age-matched normal controls.

The main objective is to establish that a new technique of amyloidosis typing by Proteomics (based on nanoLC-MS/MS mass spectrometry) allows typing in > 90% of observations in patients whose Amyloidosis is reported to have failed typing (impossible typing, uncertain or inconsistent) with the traditional anatomopathological approach, and this in a cohort of 40 patients identified consecutively in the Department of pathological anatomy and cytology of the University Hospital of Toulouse and included prospectively.

In this project, we will try to enhance the diagnostic potentials of amyloid PET in CAA by combination of dynamic amyloid PET with MRI SWI and MR perfusion images. We will also try to investigate the roles of CAA in patients with drug-related ICH and validate the accuracy of clinical CAA diagnostic criteria. In addition, we will try to study the characteristics of long-term progression of amyloid deposition in CAA patients. This project will enroll 100 patients with ICH, 30 patients with AD, and 30 control subjects. Each patient will receive the above image studies, followed by data analysis and comparison.

Familial amyloid neuropathy due to transthyretin gene mutations (TTR-FAP) is a rare autosomal dominant inherited disease resulting in the abnormal multi-system deposition of amyloid proteins. These deposits produce a multi-organ disease. AP is usually fatal 10 to 15 years after onset of symptoms if untreated. The prevalence of the disease remains still poorly understood and usually the search for this pathology is done in a third line of investigation. So the average time to diagnosis is extremely long, from 12 to 24 month. Now that the investigators have etiological treatment ( famidis (Vyndaqel®) and Diflunisal (Dolobid)) of this disease, it is essential to be able to detect FAP patients as early as possible. With this study, investigator decided to test for TTR mutation all patients presented with neuropathy of unknown etiology at the first line of investigation. The goal of this study is to evaluate the prevalence of FAP-TTR among neuropathy and defined the best strategy to test this population for TTR mutations.