MedTrace Logo

Methylome Study in Sporadic Limb Malformations

NCT05555225 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2026-05-22

No results posted yet for this study

Summary

Some limb malformations are known to be sporadic (non hereditary). For these malformations, no molecular cause was identified, even after whole genome sequencing. Methylation of CpG islands is an epigenetic process which is usually not transmitted to the descents. We hypothesize that sporadic limb malformations may be due to a methylation anomaly. This study will include patients with Amelia or Femur Fibula Ulna Syndrome. With patients consent, we will study the methylome on DNA samples already available in our laboratory. Each patient sample will be paired to a control of same tissue, age and sex. By bioinformatics comparison, we will identify differentially methylated candidate regions.

Conditions

  • Amelia
  • Femur Fibula Ulna Syndrome

Interventions

OTHER

Methylome

Epigenetic study : analysis of DNA methylation

Sponsors & Collaborators

  • Groupement Interrégional de Recherche Clinique et d'Innovation

    collaborator OTHER

  • University Hospital, Lille

    lead OTHER

Principal Investigators

  • Perrine BRUNELLE, MD · University Hospital, Lille

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-03-02
Primary Completion
2023-07-21
Completion
2023-07-21

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05555225 on ClinicalTrials.gov