Primary LymphedemaCELSR1NCT04919655
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
An observational study of Primary Lymphedema, run by University Hospital, Montpellier at 1 site in France.
Trial summary
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Primary Lymphedema
- How many people
- 31 participants
- Where
- 1 siteFrance
- Study dates
- 1 Feb 2021to 20 Feb 2022
- 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: Patients with primary lymphedema of lower limbs, which carriewho carry d the codon stop or the amino acids substitution CELSR1 mutation, followed up at Montpellier University Hospital regardless of the age.
Who may be able to join
- Patient followed up in vascular medicine departement at Montpellier University Hospital for primary lymphedema of lower limbs, who carries the CELSR1 mutation with codon stop or amino acids substitution mechanism.
- Relatives to the index case who carry the mutation for the segregation study.
Who cannot join
- Patients who carry another mutation than CELSR1 responsible for primary lymphedema
- Syndromic form of primary lymphedema
- Patient not followed up at Montpellier University Hospital.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Uhmontpellier
Montpellier, 34295
MESTRE GODIN Sandrine, 467337028 ext. 33, s-mestre@chu-montpellier.fr
Stéphanie BADOUAILLE, 4 67 33 70 28 ext. 33
About this study
Official title: Clinical and Functional Expression Associated With CELSR1 Mutations in Primary Lymphedema of Lower Limbs
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
Read the detailed description
According to the literature, it seems that the mutation of the CELSR1 gene is associated with primary lymphedema.
Thus, the investigators have identified families with CELSR1 mutation with codon stop or animo acid substitution mechanisms among patients followed up in vascular medicine department, at Montpellier University hospital for primary lymphedema of lower limbs.
Among the mutation carriers, the investigators have collected the clinical examinations and imaging exploration results, realized systematically during the follow up of all the patient with primary lymphedema (venous Doppler, MRI of the lymphatic system, lymphoscintigraphy of the lower limbs, abdominal ultrasound), in order to search for a morphological and functional pattern associated with the mutation.
- Conditions
- Primary Lymphedema
- Keywords
- CELSR1, primary lymphedema of lower limbs, lymphedema
- Medical subject headings
- Lymphedema
What is being measured
The primary outcome is the main question the study is designed to answer.
Presence of unilateral lymphedema of lower limbs
Describe the clinical examination of all CELSR1 mutation carriers: with ISL classification and perimeter measurement and Stemmer sign.
Measured: day 1
type of the morphological and functional pattern with imaging exploration.
Describe the morphological and functional pattern of the CELSR1 mutation with the imaging exploration
Measured: day 1
Secondary outcomes (1)
determine if deactivator mutation of CELSR1
determine if deactivator mutation of CELSR1 is associated with :
- Great saphenous vein anatomical variation
- kidney's anomalies
Measured: day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jun 2021
- Study start1 Feb 2021
- Primary completion1 Feb 2022 (estimated)
- Study completion20 Feb 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary LymphedemaStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- 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 only
- Time perspective
- Retrospective
- Enrolment
- 31 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- GEHU - Duve Institute - Bruxelles
- Responsible party
- Sponsor
- Investigators
- MESTRE GODIN Sandrine, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04919655
- Sponsor's protocol ID
- RECHMPL21_0086
- Acronym
- CELSR1
- Status last verified
- May 2021
- First submitted
- 18 Mar 2021
- Last updated
- 9 Jun 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: NC
Study at a glance
From the registry record, last updated by the sponsor on 9 Jun 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Functional Expression Associated With CELSR1 Mutations in Primary Lymphedema of Lower Limbs
- ClinicalTrials.gov ID
- NCT04919655
- Acronym / sponsor ID
- CELSR1 / RECHMPL21_0086
- Conditions
- Primary Lymphedema
- Keywords
- CELSR1, primary lymphedema of lower limbs, lymphedema
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 31 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- GEHU - Duve Institute - Bruxelles
- Study start
- 1 Feb 2021 (actual)
- Primary completion
- 1 Feb 2022 (estimated)
- Study completion
- 20 Feb 2022 (estimated)
- First posted
- 9 Jun 2021 (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.
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
Detailed description
According to the literature, it seems that the mutation of the CELSR1 gene is associated with primary lymphedema.
Thus, the investigators have identified families with CELSR1 mutation with codon stop or animo acid substitution mechanisms among patients followed up in vascular medicine department, at Montpellier University hospital for primary lymphedema of lower limbs.
Among the mutation carriers, the investigators have collected the clinical examinations and imaging exploration results, realized systematically during the follow up of all the patient with primary lymphedema (venous Doppler, MRI of the lymphatic system, lymphoscintigraphy of the lower limbs, abdominal ultrasound), in order to search for a morphological and functional pattern associated with the mutation.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with primary lymphedema of lower limbs, which carriewho carry d the codon stop or the amino acids substitution CELSR1 mutation, followed up at Montpellier University Hospital regardless of the age.
Key inclusion criteria (2 listed)
- Patient followed up in vascular medicine departement at Montpellier University Hospital for primary lymphedema of lower limbs, who carries the CELSR1 mutation with codon stop or amino acids substitution mechanism.
- Relatives to the index case who carry the mutation for the segregation study.
Key exclusion criteria (3 listed)
- Patients who carry another mutation than CELSR1 responsible for primary lymphedema
- Syndromic form of primary lymphedema
- Patient not followed up at Montpellier University Hospital.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Presence of unilateral lymphedema of lower limbs
Time frame: day 1
Describe the clinical examination of all CELSR1 mutation carriers: with ISL classification and perimeter measurement and Stemmer sign.
type of the morphological and functional pattern with imaging exploration.
Time frame: day 1
Describe the morphological and functional pattern of the CELSR1 mutation with the imaging exploration
1 secondary outcome
determine if deactivator mutation of CELSR1
Time frame: day 1
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jun 2021.
- Individual participant dataSharing planned: Undecided. NC
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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.
MESTRE GODIN Sandrine principal investigator
University Hospital, Montpellier
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 Primary Lymphedema, run by University Hospital, Montpellier 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 2 inclusion and 3 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: status not confirmed, as of the sponsor's last update on 9 Jun 2021. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact MESTRE GODIN Sandrine, MD, PhD (467337028 ext. 33, s-mestre@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Presence of unilateral lymphedema of lower limbs (time frame: day 1). The study lists 2 primary outcomes in all. 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 9 Jun 2021.