Early detection of hereditary transthyretin amyloid polyneuropathy using in-vivo reflectance confocal microscopy of Meissner's corpuscles
Brief description of study
In
this study, we will explore the feasibility of using in-vivo microscopy to detect
early signs of neuropathy in patients with hATTR, a mutation of the TTR gene which causes protein damage and most significantly affects the heart and nervous system. The evaluations will be
performed in three groups of study participants:
1) Patients with hATTR amyloidosis and peripheral
polyneuropathy
2) Carriers of TTR mutations, who have no symptoms of
hATTR amyloidosis
3) Age-matched healthy control persons with no
neuropathy
The
primary outcome measure will be the density of Meissner's corpuscles found in the imaging and concentration of blood serum
NFL in patients with hATTR in comparison with carriers of TTR mutations and
healthy controls, as well as its change over time.
Secondary
outcome measures include sweat ducts’ density based on imaging, nerve conduction tests (NCT), bedside
quantitative sensory testing (Bedside-QST), neuropathy impairment score (NIS),
quality of life (Norfolk QOL questionnaire) and neuropathy symptoms and change.
Detailed description of study
Healthy control patients will undergo assessments once, while both TTR mutation carriers and symptomatic patients will undergo initial assessment and repeat assessment after one year.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
-
Conditions:
Amyloid,Polyneuropathy,Microscopy,Meissner,Healthy,HealthyVolunteers,Healthy Volunteers
-
Age: Between 18 Years - 90 Years
-
Gender: All
Patients must fall into one of the three aforementioned categories. Because this mutation does not typically present in patients under 30 years and this study will attempt to age-match the control population to the carrier and symptomatic population, all participants should be over 30 years of age with the rare exception of known carriers or symptomatic patients under 30.
Patients with known neuropathy other than TTR amyloid, those with significant risk factor for neuropathy (diabetes, family history of neuropathy, history of neurotoxic drug administration), and those with other neurological disorders associated with elevated NFL are not eligible for participation.
Updated on
23 Mar 2023.
Study ID: 849579
