Early detection of peripheral neuropathy in patients with TTRv is important to support initiation of therapy that alters the course of the disease. Current tools used to detect peripheral neuropathy may not be sensitive, especially in very early and distal peripheral neuropathy. This study will compare different methods of assessing for peripheral neuropathy including using in-vivo reflectance confocal microscopy to assess for meissner corpuscles, serum neurofilament light chain, quantitative sensory testing, neuropathy impairement scores, nerve conduction studies and quality of life and symptoms questionnaires.
Age 30 years or older Patients with known TTR mutations and neuropathy, patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease., or healthy persons without neuropathy
Exclusion Criteria:
Patients with neuropathy other than TTR amyloid Subjects with risk factors for neuropathy (diabetes, history of neuropathy in the family, neurotoxic drugs) or with neurological disorder associated with elevated NFL
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
The following age limitations will be in place for asymptomatic TTR carriers. The idea is to select patients that are likely to develop evidence of disease within the next 10 years.
