Methylome Study in Sporadic Limb Malformations

Launched by UNIVERSITY HOSPITAL, LILLE · Sep 23, 2022

Keywords

ClinConnect Summary

The Methylome Study in Sporadic Limb Malformations is researching the possible causes of certain limb malformations, specifically Amelia (absence of limbs) and Femur-Fibula-Ulna Syndrome. These conditions are usually not inherited, meaning they occur randomly and we currently don't know why. The study aims to investigate if unusual patterns in DNA, called methylation, might be involved in causing these malformations. Researchers will analyze DNA samples that are already available in the lab from patients diagnosed with these conditions, comparing them to control samples that match in age and sex.

To participate in this study, individuals must give specific consent and have a DNA sample ready in the lab. Eligible participants include those diagnosed with Amelia, meaning they have missing limbs, or those with Femur-Fibula-Ulna Syndrome, where there are issues with the femur and possibly the fibula and ulna bones. Unfortunately, those who are pregnant, nursing, or not covered by French social security cannot participate. This study is still in the planning phase and is not yet recruiting participants. If you are interested, it’s a great opportunity to contribute to understanding these conditions better.

Gender

ALL

Eligibility criteria

• 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