AmeliaMETHYLIMBNCT05555225
Methylome Study in Sporadic Limb Malformations
An observational study of Amelia and Femur Fibula Ulna Syndrome, run by University Hospital, Lille at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Amelia, Femur Fibula Ulna Syndrome
- What is being tested?
- Methylome
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 2 Mar 2023to 21 Jul 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
- Conditions
- Amelia, Femur Fibula Ulna Syndrome
- Being tested
- Methylome
- Keywords
- Amelia, Femur-Fibula-Ulna Syndrome, Methylation, Limb development, Gene regulation
- Medical subject headings
- Ectromelia, Femur fibula ulna syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MethylomeOther
Epigenetic study : analysis of DNA methylation
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: Methylome | |
| 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. Receives: Other: Methylome | |
| 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. Receives: Other: Methylome |
What is being measured
The primary outcome is the main question the study is designed to answer.
Differentially Methylated Regions
Measured: through study completion an average of 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2022
- Study start2 Mar 2023
- Primary completion21 Jul 2023
- Study completion21 Jul 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AmeliaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Collaborators
- Groupement Interrégional de Recherche Clinique et d'Innovation
- Responsible party
- Sponsor
- Investigators
- Perrine BRUNELLE, MD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05555225
- Sponsor's protocol ID
- 2021_0524
- Other IDs
- 2022-A01441-42
- Acronym
- METHYLIMB
- Status last verified
- May 2026
- First submitted
- 23 Sep 2022
- Last updated
- 22 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Methylome Study in Patients Affected With Sporadic Limb Malformations
- ClinicalTrials.gov ID
- NCT05555225
- Acronym / sponsor ID
- METHYLIMB / 2021_0524
- Conditions
- Amelia, Femur Fibula Ulna Syndrome
- Keywords
- Amelia, Femur-Fibula-Ulna Syndrome, Methylation, Limb development, Gene regulation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Collaborators
- Groupement Interrégional de Recherche Clinique et d'Innovation
- Study start
- 2 Mar 2023 (actual)
- Primary completion
- 21 Jul 2023 (actual)
- Study completion
- 21 Jul 2023 (actual)
- First posted
- 26 Sep 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patients with amelia | – | Other: MethylomePatients 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 Femur-Fibula-Ulna Syndrome | – | Other: MethylomePatients 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 | – | Other: MethylomeHealthy subjects used as controls, who gave their consent for the research and for whom a DNA sample is available in our laboratory. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MethylomeEpigenetic study : analysis of DNA methylation | Other | Healthy subjects, Patients with Femur-Fibula-Ulna Syndrome, Patients with amelia |
Primary outcome
Differentially Methylated Regions
Time frame: through study completion an average of 3 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 May 2026.
Related trials for Amelia
RecruitingObservational study
CNS Changes Following Upper Limb Loss
Amputation, Congenital, Upper Limb; Amelia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Perrine BRUNELLE, MD principal investigator
University Hospital, Lille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Amelia and Femur Fibula Ulna Syndrome, run by University Hospital, Lille at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Differentially Methylated Regions (time frame: through study completion an average of 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 May 2026.