Status:

ACTIVE_NOT_RECRUITING

Early Detection of Neuropathy in ATTRv

Lead Sponsor:

University of Pennsylvania

Collaborating Sponsors:

Ionis Pharmaceuticals, Inc.

AstraZeneca

Conditions:

Hereditary Amyloidosis, Transthyretin-Related

Eligibility:

All Genders

30-90 years

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.

Detailed 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 m...

Eligibility Criteria

Inclusion

  • 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:
  • 5 patients age 30-40
  • 5 patients age 40-50
  • 5 patients age 50-60
  • 5 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.

Exclusion

  • 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

Key Trial Info

Start Date :

February 14 2022

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

February 14 2029

Estimated Enrollment :

47 Patients enrolled

Trial Details

Trial ID

NCT05311488

Start Date

February 14 2022

End Date

February 14 2029

Last Update

September 18 2025

Active Locations (1)

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1

University of Pennsylvania

Philadelphia, Pennsylvania, United States, 19104