NCT05555225

Methylome Study in Sporadic Limb Malformations

Methylome Study in Patients Affected With Sporadic Limb Malformations

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 48 (estimated)
• Sponsor: University Hospital, Lille · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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

Type	Name	Description
OTHER	Methylome	Epigenetic study : analysis of DNA methylation

Timeline

• Start date: 2025-04-01
• Primary completion: 2026-07-01
• Completion: 2026-07-01
• First posted: 2022-09-26
• Last updated: 2024-05-16