NCT05555225|Completed
Methylome Study in Sporadic Limb Malformations
METHYLIMB
Methylome Study in Patients Affected With Sporadic Limb Malformations
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METHYLIMB
Methylome Study in Patients Affected With Sporadic Limb Malformations
Sponsor study identifier
Secondary identifiers
OTHER · ID-RCB number, ANSM
observational
40
1 country
1
Study Start
March 2, 2023
Actual (reported)Primary Completion
July 21, 2023
Actual (reported)Study Completion
July 21, 2023
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
July 21, 2023
Actual (reported)Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
September 23, 2022
Actual (reported)September 26, 2022
Actual (reported)March 2, 2023
Actual (reported)July 21, 2023
Actual (reported)July 21, 2023
Actual (reported)Differentially Methylated Regions
through study completion an average of 3 years
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 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 used as controls, who gave their consent for the research and for whom a DNA sample is available in our laboratory.
Epigenetic study : analysis of DNA methylation
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
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.
chu de Lille
Lille, France
Perrine BRUNELLE, MD
University Hospital, Lille
40 participants (actual enrollment reported by the registry).
First Submitted
September 23, 2022
First Posted
September 26, 2022
Study Start
March 2, 2023
Actual (reported)Contact the study team to confirm eligibility.
Primary Completion
July 21, 2023
Actual (reported)Study Completion
July 21, 2023
Actual (reported)Last Updated
May 22, 2026
Record last verified: 2026-05
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Source: ClinicalTrials.gov.
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