Early Detection of Neuropathy in ATTRv (EDONA)

University of Pennsylvania

Status: Active, not recruiting

Conditions: Hereditary Amyloidosis, Transthyretin-Related

Treatments: Diagnostic Test: In-vivo Meissner Corpuscle imaging; Diagnostic Test: Nerve conduction study; Diagnostic Test: neurofilament light chain

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT05311488

849579

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 47 patients

Sex: All

Ages: 30 to 90 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

47 participants in 3 patient groups

Symptomatic TTRv

Description:

Patients with known TTR mutations and neuropathy

Treatment:

Diagnostic Test: neurofilament light chain

Diagnostic Test: Nerve conduction study

Diagnostic Test: In-vivo Meissner Corpuscle imaging

Asymptomatic TTRv

Description:

Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease

Treatment:

Diagnostic Test: neurofilament light chain

Diagnostic Test: Nerve conduction study

Diagnostic Test: In-vivo Meissner Corpuscle imaging

Healthy controls

Description:

Age and sex matched healthy controls without neuropathy or other neurological disorder.

Treatment:

Diagnostic Test: neurofilament light chain

Diagnostic Test: Nerve conduction study

Diagnostic Test: In-vivo Meissner Corpuscle imaging