Methylome Study in Sporadic Limb Malformations

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

48 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-04-30

Study Completion Date

2026-07-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Amelia Femur Fibula Ulna Syndrome

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

RETROSPECTIVE

* 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

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes