Active clinical trials for "Amyloidosis"

Peripheral neuropathies are diseases that affect the nervous system outside the brain and spinal cord, their prevalence is 1% in the general population, the causes are extremely varied with more than 200 identified causes; the main ones are diabetes, excessive alcohol consumption and chemotherapy. They may be sometimes disabling but generally preserve autonomy. Transthyretin amyloidosis is a rare multisystematic hereditary disease with autosomal dominant transmission. They present usually as a peripheral neuropathies (FAP). They are due to a point mutation of the transthyretin gene (chr 18q). FAP is secondary to endoneurial amyloid deposits and are characterized by a slowly progressive sensory, motor and autonomic. FAP is the most severe hereditary polyneuropathy of the adult are irreversible and fatal within 5 to 12 years from onset. Most frequent mutation of TTR gene is located on the second exon; but more than 100 mutations have been reported. Prevalence of FAP is 1 per 1 million inhabitants. They have been reported until 1990s' in four endemic areas North of Portugal, Sweden, Japan and Majorca. In these areas, diagnosis is facilitated because of the stereotypical presentation : a length-dependent polyneuropathy with predominant involvement of thermal and pain sensations and autonomic dysfunction, early onset in the third decade and a predominant Met30 TTR mutation. Positive family history is frequent 85% (one of the parents is affected). Diagnosis requires detection of TTR mutation by molecular biology (blood sample) and characterization of amyloid deposit on labial salivary gland biopsy.

Amyloidosis is a disease caused by the continuous accumulation of fibrillary proteins in the extracellular matrix causing the architecture of different organs to be disrupted. The prevalence of the disease increases with age. The two most common forms are light chain amyloidosis (AL) and transthyretin (TTR). TTR amyloidosis may be hereditary (m-TTR, or mutated) or age-related (WT-TTR, or wild). The latter is also called senile amyloidosis. In all these forms, cardiac impairment is common and leads the patient to consult/or be referred to a cardiological center unfortunately often too late when the prognosis is directly related to the severity of the heart attack. The description/discovery of clinical signs prior to heart disease is important to improve the detection and diagnosis of early forms of cardiac amyloidosis (CA). For example, an infiltration of the carpal tunnel synovial by amyloid deposits is observed in some patients, 5 years before the onset of signs of heart failure and is the only warning sign of the disease known to date. We also showed in a previous study that patients had more severe and earlier impairment of hearing function than expected by age and gender. Objective The main objective is to define the prevalence and severity of smell and taste disorders in a population of patients with cardiac amyloidosis (3 types of mutated or wild AL amyloidosis and TTR). The main endpoint is to determine the number of patients with impaired smell and taste's functions in a population of patients diagnosed with cardiac amyloidosis (3 types of mutated (hereditary) or senile wild amyloidosis (3 types of AL amyloidosis and TTR). Method Successive monocentric cross-sectional study on the screening of smell and taste disorders carried out as part of a cardiology hospitalization programmed for the cardiology follow-up of his pathology in a population of patients diagnosed with AC.

Amyloid heart disease is an accumulation of fibrillar proteins in the extracellular sector of the heart. Identified on echocardiography as Ventricular hypertrophy. The investigation of a Left Ventricular hypertrophy (LVH) is the most frequent discovery circumstance of amyloid heart disease. Pathophysiological mechanisms poorly understood, resulting in late diagnosis. Transthyretin amyloid heart disease (CATTR) is the most common form of cardiac amyloidosis in the West Indies due to an abnormally high frequency of the Val122Ile and Val107Ile mutations of the transthyretin gene in this population. Val122Ile and Val107Ile mutated-transthyretin are the substitution of valine for isoleucine at codon 122 of the TTR gene ( V122I) and at codon 107 of the TTR gene (V107I). Complications of CATTR are functional changes in heart cells or even death due to mechanical abnormalities (loss of contractility and increased wall stiffness cardiac arousal and conduction disturbances). These disorders result from an electrical abnormality of the heart the reason why the cardiologist performs preventive performance of electrophysiological explorations with EnSite Precision™. It's a registration system used to detect foci of necrosis within the myocardium. Amyloid deposits are areas devoid of electrical activity. Do they detectable by the EnSite Precision™ recording system ?

Amyloidosis by mutation of the transthyretin gene (ATTRh) is part of a group of diseases in which the deposit of structurally abnormal proteins (amyloid fibrils) affects multiple organs such as: liver, kidney, eyes, nervous system, gastrointestinal tract and heart, and, finally, it increases the morbidity and mortality of affected patients. This deposit in the myocardium is manifested syndromically as heart failure with preserved or slightly reduced systolic function, and important diastolic dysfunction. The analysis of diastolic function comprises two components: the assessment of active relaxation, dependent on preload and afterload, and the assessment of the passive properties of the tissue - its hardness or rigidity. Myocardial stiffness represents an important parameter for diagnosis and prognosis, but its evaluation is not included in conventional echocardiography. Cardiac elastography has recently been proposed as a non-invasive diagnostic modality to assess myocardial stiffness.

This study is an online (web-based) or paper-based survey for patients with transthyretin familial amyloidosis polyneuropathy (TTR-FAP) and caregivers. The results will be used to describe the emotional, physical, and financial impact of having TTR-FAP or caring for someone who has the disease.

Background: Previous epidemiological and animal studies have suggested a strong relationship between prediabetes and Alzheimer's disease. Recently, we demonstrated that plasma β-amyloid (Aβ), a potential biomarker for Alzheimer's disease, was elevated in individuals with type 2 diabetes. However, few studies have investigated the associations of plasma Aβ40 and Aβ42 concentrations with prediabetes. Objective: we aimed to investigate the associations of plasma Aβ40 and Aβ42 concentrations with risk of prediabetes in two independent studies. Design: We performed a case-control study and a nested case-control study within a prospective cohort study. In the case-control study, we included 571 newly diagnosed individuals with prediabetes and 571 control participants. Prediabetes individuals were consecutively recruited from subjects who attended the outpatient clinics of Department of Endocrinology at Tongji Medical College Hospital from 2012 to 2015. Concomitantly, we recruited healthy controls from a general population undergoing a routine health checkup in the same hospital. One healthy control was selected at random for each prediabetes individuals according to age (±3 years) and sex. The inclusion criteria of participants were as follows: age ≥30 and ≤80 years, BMI <40 kg/m2, no history of prediabetes and diabetes mellitus, no history of receiving pharmacological treatment for hyperlipidemia, nor any clinically systemic disease, any acute illness, and chronic inflammatory or any infective disease. An independent nested case-control study was conducted within an ongoing cohort study, namely the Tongji-Ezhou cohort. Briefly, 5533 participants, including 3101 retired employees and 2432 working employees, were enrolled from Echeng Stell and received healthcare for a baseline investigation between 2013 and 2015. The first follow-up for all participants was finished by mid-2020. Considering the low incidence of prediabetes among young working employees, we performed the nested case-control study among retired employees. During the follow-up, 119 new-onset prediabetes cases were diagnosed within the retired employees according to fasting plasma glucose. We randomly selected the control participants who matched 2:1 to the cases by age (±3 years) and sex from the retired employees with normal fasting plasma glucose. The inclusion criteria were the same as the case-control study; 2 new-onset prediabetes cases aged >80 years were excluded. Additionally, 17 cases without enough plasma were excluded. Finally, 100 individuals with new-onset prediabetes and 200 well-matched control participants were included for the analysis of the nested case-control study. These two studies were approved by the Ethics and Human Subject Committee of Tongji Medical College. All enrolled participants in the two studies were of Chinese Han ethnicity and provided informed written consent. Plasma Aβ40 and Aβ42 concentrations were simultaneously measured by validated assay platforms from Meso Scale Discovery (MSD; Rockville, MD, USA).

Cardiac amyloidosis is a common cause of refractory cardiomyopathy and heart failure in an adult population. There are several types of cardiac amyloidosis, but two are the most common (1): A. AL - Light chain sunset. B. ATTR - Sunset of transthyretin protein. This amyloidosis has two subtypes: Hereditary / familial - due to genetic mutation Senile / Wild-type (WT) - Acquired with age The main goal of this study is to evaluate cardiac amyloidosis imaging efficiency using 18F-NaF PET / CT and quantification of absorption [in standard uptake value SUVs]. and to compare cardiac amyloidosis imaging using 18F-NaF PET / CT and gamma camera imaging with 99mTc-PYP.

A study of patients with hereditary transthyretin amyloidosis (ATTRv) and wild-type transthyretin amyloidosis (ATTRwt) that have been enrolled in B3461028 and B3461045 studies in Spain - exposed to tafamidis 61mg for ≥12 months with polyneuropathy (PN) have kept going to their multisystemic follow-ups (neuro/ophtalmo/gastrointestinal) ≥12 months.

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.

Malnutrition is a prominent clinical feature of patients affected by systemic immunoglobulin light-chain amyloidosis (AL), with a prevalence ranging between 25-50%. Although the prognosis predominantly depend on the presence and severity of cardiac involvement, it was shown that malnutrition is an independent predictor of survival and quality of life. However, the assessment of nutritional status by common indices based on anthropometry is not always feasible and accurate due to reduced performance status and/or the presence of fluid imbalances (for example edema and ascites). Several recent studies have demonstrated the prognostic value of the phase angle. Moreover, the value is supported by its applicability to patients who are bedridden or present alterations in the state of hydration.