Early Detection of Neuropathy in ATTRv

NCT05311488 | Completed

• 1 other identifier: 849579
• Study Type: observational
• Target: 47
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hereditary Amyloidosis, Transthyretin-Related

Keywords

transthryretin; Hereditary transthyretin amyloidosis; TTRv; familial amyloid polyneuropathy

Outcome Measures

Primary Outcomes (2)

• Change in Serum neurofilament light chain

  Change in Serum neurofilament light chain concentration at 12 months

  12 months

• Meissner corpuscles

  Change in Meissner corpuscles density at 12 months

  12 months

Secondary Outcomes (3)

• Quantitative sensory testing

  12 months

• Neuropathy symptoms questionnaire

  12 months

• Neuropathy impairment score

  12 months

Study Arms (3)

Symptomatic TTRv

Patients with known TTR mutations and neuropathy

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

Asymptomatic TTRv

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

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

Healthy controls

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

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

Interventions

neurofilament light chain DIAGNOSTIC_TEST

Blood test

Asymptomatic TTRv; Healthy controls; Symptomatic TTRv

In-vivo Meissner Corpuscle imaging DIAGNOSTIC_TEST

Imaging

Asymptomatic TTRv; Healthy controls; Symptomatic TTRv

Nerve conduction study DIAGNOSTIC_TEST

Nerve conduction study

Asymptomatic TTRv; Healthy controls; Symptomatic TTRv

Eligibility Criteria

• Age: 30 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

ATTRv symptomatic, asymptomatic and control.

You may qualify if:

• Patients with known TTR mutations and neuropathy
• Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease
• Age criteria must meet the following:
• Non V122I mutations, Age 40 or older.
• V122 I mutations, 55 or older.
• Healthy persons without neuropathy
• The following distribution of age ranges will be considered when enrolling healthy participants:
• patients age 30-40
• patients age 40-50
• patients age 50-60
• patients age 60-70
• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Pennsylvania: lead
• Ionis Pharmaceuticals, Inc.: collaborator
• AstraZeneca: collaborator

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood will be processed, and serum will be stored according to PDMDC GeneticsBiobank protocol. The serum will be assayed by ultrasensitive single molecule array (Simoa NF-Light® assay, Quanterix, Lexington, MA) to determine NF-L concentration. Samples will be tested in duplicate.

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related; Amyloid Neuropathies, Familial

Interventions

Nerve Conduction Studies

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Amyloid Neuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amyloidosis, Familial; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Amyloidosis; Proteostasis Deficiencies

Intervention Hierarchy (Ancestors)

Diagnostic Techniques, Neurological; Diagnostic Techniques and Procedures; Diagnosis; Electrodiagnosis

Study Officials

• Chafic Karam, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

• Brian Drachman

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

• Sami Khella, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

• Janice Pieretti, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 16, 2022
• First Posted: April 5, 2022
• Study Start: February 14, 2022
• Primary Completion: November 1, 2025
• Study Completion: February 14, 2026
• Last Updated: March 12, 2026

Record last verified: 2026-03

Locations

US (1)