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Early Detection of Neuropathy in ATTRv
Early Detection of Neuropathy in ATTRv
CompletedN/A
Sponsor: University of Pennsylvania
Conditions: Hereditary Amyloidosis, Transthyretin-Related
Interventions: neurofilament light chain, In-vivo Meissner Corpuscle imaging, Nerve conduction study
Countries: United States
The purpose of the study is to evaluate and compare different tools that are used to detect evidence of peripheral neuropathy in patients with TTRv.
Eligibility overview
Sex: ALL
Age: 30 Years to 90 Years
Healthy volunteers: Yes
Study type: OBSERVATIONAL
Eligibility criteria
Inclusion Criteria: Patients with known TTR mutations and neuropathy 1. Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease 2. Age criteria must meet the following: * Non V122I mutations, Age 40 or older. * V122 I mutations, 55 or older. Healthy persons without neuropathy 1. The following distribution of age ranges will be considered when enrolling healthy participants: * 5 patients age 30-40 * 5 patients age 40-50 * 5 patients age 50-60 * 5 patients age 60-70 2. Healthy control subjects for this study are defined as subjects with no symptoms of neuropathy or risk factors for neuropathy such as family history of hereditary neuropathy, chemotherapy, diabetes, autoimmune disease, or vitamin deficiency. Their status will be verified by medical records review. Exclusion Criteria: 1. Patients with neuropathy other than TTR amyloid 2. Subjects with risk factors for neuropathy (diabetes, history of neuropathy in the family, neurotoxic drugs) or with neurological disorder associated with elevated NFL
Locations (1)
- Philadelphia, Pennsylvania, United States