Clinical Trial: Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Detailed Summary:

Diseases of diverse etiology can be correlated to the term "polyneuropathy"(PNP). The pathogenesis may be of inflammatory, autoimmune, metabolic, toxic or hereditary nature. Careful clinical and electrodiagnostic assessment, with attention to the pattern of involvement and the types of nerve fibers most affected, narrows the differential diagnosis and helps to focus the laboratory evaluation. Beside the frequent genetic etiologies in PNP (pmp22, MFN2) one cause of a polyneuropathy may be a hereditary amyloidosis. This term describes the accumulation of misfolded protein in the interstitial space. The abnormal accumulation of β-fibrils can be detected histologically by Congo pink staining. Aside from acquired amyloidotic neuropathies (e.g. PNP caused by AL-amyloidosis there are also hereditary amyloidotic neuropathies.

These have been described as endemic in Sweden, Portugal or Japan. More recent studies provided evidence for the presence of hereditary amyloidotic neuropathies amongst the German population and that they are currently underdiagnosed. The most common form of the hereditary familial amyloidotic neuropathy (FAP) is the Transthyretin-related FAP, however two other amyloidogenic proteins have been described: Apolipoprotein A-I and Gelsolin. The TTR-FAP is an autosomal dominant disease, the exact prevalence of which is unknown but estimated to be around 1:100,000 to 1:1,000,000 in the normal population. By limiting the study population to patients with PNP of unknown etiology it should be possible to gain evidence for the prevalence of the disease in Germany by investigating fewer patients.

While the diagnosis of the amyloidotic neuropathy can be conducted histologically, a molecular genetic approach is necessary to diagnose TTR-FAP. Even though more than 100 point mutations are known to cause the d
Sponsor: University of Rostock

Current Primary Outcome: Development of a new MS-based biomarker for the early diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy disease from plasma [ Time Frame: 36 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Number of correctly identified patients with Gilbert disease [ Time Frame: 36 months ]

Original Secondary Outcome: Same as current

Information By: University of Rostock

Dates:
Date Received: January 13, 2016
Date Started: January 2016
Date Completion: January 2019
Last Updated: September 19, 2016
Last Verified: September 2016