Early Detection of Neuropathy in ATTRv

NCT ID: NCT05311488

Last Updated: 2025-09-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

47 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-02-14

Study Completion Date

2029-02-14

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Hereditary Amyloidosis, Transthyretin-Related

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Symptomatic TTRv

Patients with known TTR mutations and neuropathy

neurofilament light chain

Intervention Type DIAGNOSTIC_TEST

Blood test

In-vivo Meissner Corpuscle imaging

Intervention Type DIAGNOSTIC_TEST

Imaging

Nerve conduction study

Intervention Type DIAGNOSTIC_TEST

Nerve conduction study

Asymptomatic TTRv

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

neurofilament light chain

Intervention Type DIAGNOSTIC_TEST

Blood test

In-vivo Meissner Corpuscle imaging

Intervention Type DIAGNOSTIC_TEST

Imaging

Nerve conduction study

Intervention Type DIAGNOSTIC_TEST

Nerve conduction study

Healthy controls

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

neurofilament light chain

Intervention Type DIAGNOSTIC_TEST

Blood test

In-vivo Meissner Corpuscle imaging

Intervention Type DIAGNOSTIC_TEST

Imaging

Nerve conduction study

Intervention Type DIAGNOSTIC_TEST

Nerve conduction study

Interventions

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neurofilament light chain

Blood test

Intervention Type DIAGNOSTIC_TEST

In-vivo Meissner Corpuscle imaging

Imaging

Intervention Type DIAGNOSTIC_TEST

Nerve conduction study

Nerve conduction study

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

30 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Ionis Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role collaborator

AstraZeneca

INDUSTRY

Sponsor Role collaborator

University of Pennsylvania

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Chafic Karam, MD

Role: PRINCIPAL_INVESTIGATOR

University of Pennsylvania

Brian Drachman

Role: PRINCIPAL_INVESTIGATOR

University of Pennsylvania

Sami Khella, MD

Role: PRINCIPAL_INVESTIGATOR

University of Pennsylvania

Janice Pieretti, MD

Role: PRINCIPAL_INVESTIGATOR

University of Pennsylvania

Locations

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University of Pennsylvania

Philadelphia, Pennsylvania, United States

Site Status

Countries

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United States

Other Identifiers

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849579

Identifier Type: -

Identifier Source: org_study_id

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