View clinical trials related to Amyloid Neuropathies, Familial.
Filter by:Systemic transthyretin amyloidosis is an aging-related disorder. It is usually associated with cardiac disease but also extends to other organs. Recent studies found that idiopathic carpal tunnel syndrome patients may have amyloid deposition in tenosynovial tissue. The main aims of this project are the characterization of the association between idiopathic carpal tunnel syndrome and transthyretin amyloidosis and its evaluation as a predictive factor of cardiac amyloidosis
This study will examine the clinical effectiveness of Tafamidis in patients with Mixed Phenotype Hereditary Transthyretin Amyloidosis using data that already exist in patients' medical records.
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.
Phase 3 efficacy and safety of acoramidis in subjects with symptomatic Transthyretin Amyloid Polyneuropathy (ATTR-PN)
This is a prospective, non-interventional, Long-term, multinational cohort safety study of patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN). The overarching goal of this study is to further characterize the long-term safety of TEGSEDI (inotersen) in patients with hATTR-PN under real-world conditions.
This study will be conducted to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NTLA-2001 in participants with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and participants with hereditary transthyretin amyloidosis with cardiomyopathy (ATTRv-CM) or wild type cardiomyopathy (ATTRwt-CM)
Specific, standardized, comprehensive, universally accepted Patient-Reported Outcome Measures (PROMs) are currently lacking for variant and wild-type cardiac amyloid transthyretin amyloidosis (v-ATTR/wt-ATTR). Our goal is then to create two scores able to provide a cumulative assessment of cardiac involvement, peripheral neuropathy (in v-ATTR), and comorbidities, and their impact on the quality of life. In the setting of a nationwide collaboration involving 5 main Italian referral centers for this condition (in Ferrara, Florence, Pavia, Pisa and Messina), a panel will be created, including experts of ATTR cardiomyopathy, neurologists, geriatricians, health management specialists, as well as patients with either variant or wild-type ATTR cardiomyopathy (n=50). The most clinically relevant domains for patients (such as physical limitations, symptoms, self-efficacy and knowledge, social interference, quality of life, age-related issues, social and family environment, frailty, comorbidities) will be identified. Two sets of 30 items (one for variant and another for wild-type ATTR cardiomyopathy) will be created in collaboration with patients. Questions will be formatted for gender neutrality, clarity, interpretability, and possible foreign language translations. PROMs scores will be validated through administration to around 250 consecutive outpatients. Score performance will be evaluated in terms of internal consistency, response to clinical changes, comparison with conventional clinical measures. The time needed for completion, the clarity of questions and the need for assistance from a family caregiver will be evaluated. This project will hopefully lead to the identification of disease-specific metrics that may serve as a clinically meaningful outcome in cardiovascular research, patient management, and quality assessment.
See updated study design under NCT04882735. Phase 3 efficacy and safety of AG10 compared with placebo in subjects with symptomatic Transthyretin Amyloid Polyneuropathy (ATTR-PN)
The objective of the study is to characterize adverse events (AEs) occurring within one day of TEGSEDI administration to adult patients with hATTR-PN overall and in individual patients with respect to time course of AE onset, vital sign changes, preventive measures, treatment required, risk factors, and subsequent adverse outcomes.
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in patients with ATTR amyloidosis with cardiomyopathy.