New genetic test may uncover hidden nerve disease in patients with unexplained symptoms

NCT ID NCT03720275

First seen Jun 05, 2026 · Last updated Jun 16, 2026 · Updated 2 times

Summary

This study tested a new genetic screening approach to find cases of a rare inherited nerve disease called TTR-FAP in 130 patients with chronic neuropathy of unknown cause. The goal was to see how many of these patients actually have TTR-FAP, which is often missed due to varied symptoms. By using a simple blood test to look for TTR gene mutations, researchers hope to speed up diagnosis and allow earlier treatment.

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Contacts and locations

Locations

  • Reference center for neuromuscular diseases

    Bordeaux, 33076, France

Conditions

Explore the condition pages connected to this study.

Conditions inferred from the trial description

These were inferred from the trial's summary, not listed by the trial registrant.