Scientists hunt for hidden DNA clues behind missing limbs

NCT ID NCT05555225

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study investigates whether changes in DNA methylation—a kind of chemical switch—might cause certain rare limb malformations that appear without a family history. Researchers will compare DNA samples from 40 people with Amelia (missing two or four limbs) or Femur Fibula Ulna Syndrome against matched controls. The goal is to identify regions where methylation differs, which could point to new causes for these conditions. No treatment or intervention is involved.

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Conditions

The condition(s) this trial relates to.

Ectromelia femur-fibula-ulna complex non-syndromic amelia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • chu de Lille

    Lille, France