Methylome Study in Sporadic Limb Malformations

Not yet recruiting

• Conditions: Amelia; Femur Fibula Ulna Syndrome
• Interventions: Other: Methylome

• Registration Number: NCT05555225
• Lead Sponsor: University Hospital, Lille

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-09-23
• Study First Submitted QC: 2022-09-23
• Study First Posted: 2022-09-26
• Status Verified: 2024-05
• Last Update Submitted: 2024-05-14
• Last Update Posted: 2024-05-16
• Study Start: 2025-04
• Primary Completion: 2026-07
• Study Completion: 2026-07

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 48

Inclusion Criteria

• Specific consent for this study
• DNA available in the laboratory
• For amelia : agenesia of 2 or 4 limbs
• For Femur-Fibula-Ulna Syndrome : hypoplasia or agenesia of the femur uni or bilateral with hypoplasia or agenesia or bowing of the fibula and/or of the ulna

Exclusion Criteria

• No consent
• No available DNA or poor quality of the DNA sample
• Patient under tutorship
• Pregnancy or nursing mother
• Patient non covered by the French social security

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with amelia	Methylome	Patients with severe hypoplasia or agenesia of at least two limbs who gave their consent for the research and for whom a DNA sample is available in our laboratory
Patients with Femur-Fibula-Ulna Syndrome	Methylome	Patients with anomaly of at least one femur, one fibula and with oligodactyly who gave their consent for the research and for whom a DNA sample is available in our laboratory.
Healthy subjects	Methylome	Healthy subjects used as controls, who gave their consent for the research and for whom a DNA sample is available in our laboratory.

Primary Outcome Measures

Name	Time	Method
Differentially Methylated Regions	through study completion an average of 3 years