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Report for Clinical Trial NCT02713880

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy - An International, Multicenter, Epidemiological Protocol

International, multicenter, observational, longitudinal study to identify biomarker/s for the development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood and number of correctly identified patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy

NCT02713880 Transthyretin Amyloidosis Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy Transthyretin Amyloid Cardiopathy
MeSH:Polyneuropathies Amyloid Neuropathies Amyloid Neuropathies, Familial Amyloidosis
HPO:Amyloidosis Lattice corneal dystrophy Motor polyneuropathy Polyneuropathy


Primary Outcomes

Measure: Development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood

Time: 36 months

Secondary Outcomes

Measure: Number of correctly identified patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy

Time: 36 months

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 V30M

Even though more than 100 point mutations are known to cause the disease, the most common amino acid change is V30M. --- V30M ---



HPO Nodes


HPO: