Methylome Study in Sporadic Limb Malformations (METHYLIMB)

May 18, 2026 updated by: University Hospital, Lille

Methylome Study in Patients Affected With 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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Lille, France
        • CHU de Lille

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

DNA samples were obtained from the molecular biology laboratory of Lille university hospital. All patients exhibiting amelia or Femur-Fibula-Ulna Syndrome and with enough DNA available in the lab could be included.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with amelia
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
Other: Methylome
Epigenetic study : analysis of DNA methylation
Patients with Femur-Fibula-Ulna Syndrome
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.
Other: Methylome
Epigenetic study : analysis of DNA methylation
Healthy subjects
Healthy subjects used as controls, who gave their consent for the research and for whom a DNA sample is available in our laboratory.
Other: Methylome
Epigenetic study : analysis of DNA methylation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Differentially Methylated Regions
Time Frame: through study completion an average of 3 years
through study completion an average of 3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Lille

Collaborators

Groupement Interrégional de Recherche Clinique et d'Innovation

Investigators

  • Principal Investigator: Perrine BRUNELLE, MD, University Hospital, Lille

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 2, 2023

Primary Completion (Actual)

July 21, 2023

Study Completion (Actual)

July 21, 2023

Study Registration Dates

First Submitted

September 23, 2022

First Submitted That Met QC Criteria

September 23, 2022

First Posted (Actual)

September 26, 2022

Study Record Updates

Last Update Posted (Actual)

May 22, 2026

Last Update Submitted That Met QC Criteria

May 18, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2021_0524
  • 2022-A01441-42 (Other Identifier: ID-RCB number, ANSM)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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