Methylome Study in Sporadic Limb Malformations

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Amelia Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectromelia Femur Fibula Ulna Syndrome Limb Deformities, Congenital Musculoskeletal Abnormalities Musculoskeletal Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

chu de Lille

Lille, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Methylome

Other

Epigenetic study : analysis of DNA methylation

Primary outcomes

Differentially Methylated Regions

Time frame: through study completion an average of 3 years

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Collaborators

Groupement Interrégional de Recherche Clinique et d'Innovation

Registry information

Official study title

Methylome Study in Patients Affected With Sporadic Limb Malformations

Acronym: METHYLIMB

Important dates

Study start: 2023
Primary completion: 2023
Study completion: 2023
First posted: Sep 26, 2022
Registry last updated: May 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed