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出境医 / 临床实验 / Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1) (CELSR1)
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1) (CELSR1)
Study Description
Brief 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
| Condition or disease |
|---|
| Primary Lymphedema |
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
| Study Type : | Observational |
| Estimated Enrollment : | 31 participants |
| Observational Model: | Case-Only |
| Time Perspective: | Retrospective |
| Official Title: | Clinical and Functional Expression Associated With CELSR1 Mutations in Primary Lymphedema of Lower Limbs |
| Actual Study Start Date : | February 1, 2021 |
| Estimated Primary Completion Date : | February 1, 2022 |
| Estimated Study Completion Date : | February 20, 2022 |
Arms and Interventions
Outcome Measures
Primary Outcome Measures :
- 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
Secondary Outcome Measures :
- determine if deactivator mutation of CELSR1 [ Time Frame: day 1 ]
determine if deactivator mutation of CELSR1 is associated with :
- Great saphenous vein anatomical variation
- kidney's anomalies
Eligibility Criteria
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
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.
Criteria
Inclusion criteria:
- 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.
Exclusion criteria:
- Patients who carry another mutation than CELSR1 responsible for primary lymphedema
- Syndromic form of primary lymphedema
- Patient not followed up at Montpellier University Hospital.
Contacts and Locations
Contacts
| Contact: MESTRE GODIN Sandrine, MD, PhD | 467337028 ext 33 | s-mestre@chu-montpellier.fr | |
| Contact: Aurélie LAY, résident | 4 67 33 70 28 ext 33 | a-lay@chu-montpellier.fr |
Locations
| France | |
| Uhmontpellier | Recruiting |
| Montpellier, France, 34295 | |
| Contact: MESTRE GODIN Sandrine 467337028 ext 33 s-mestre@chu-montpellier.fr | |
| Contact: Stéphanie BADOUAILLE 4 67 33 70 28 ext 33 | |
Sponsors and Collaborators
University Hospital, Montpellier
GEHU - Duve Institute - Bruxelles
Investigators
| Principal Investigator: | MESTRE GODIN Sandrine | University Hospital, Montpellier |
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date | March 18, 2021 | ||||||||
| First Posted Date | June 9, 2021 | ||||||||
| Last Update Posted Date | June 9, 2021 | ||||||||
| Actual Study Start Date | February 1, 2021 | ||||||||
| Estimated Primary Completion Date | February 1, 2022 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
|
||||||||
| Original Primary Outcome Measures | Same as current | ||||||||
| Change History | No Changes Posted | ||||||||
| Current Secondary Outcome Measures |
determine if deactivator mutation of CELSR1 [ Time Frame: day 1 ] determine if deactivator mutation of CELSR1 is associated with :
|
||||||||
| Original Secondary Outcome Measures | Same as current | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1) | ||||||||
| Official Title | Clinical and Functional Expression Associated With CELSR1 Mutations in Primary Lymphedema of Lower Limbs | ||||||||
| Brief 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 | ||||||||
| 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 Type | Observational | ||||||||
| Study Design | Observational Model: Case-Only Time Perspective: Retrospective |
||||||||
| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Not Provided | ||||||||
| Sampling Method | Non-Probability Sample | ||||||||
| 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. | ||||||||
| Condition | Primary Lymphedema | ||||||||
| Intervention | Not Provided | ||||||||
| Study Groups/Cohorts | Not Provided | ||||||||
| Publications * | Not Provided | ||||||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
31 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | February 20, 2022 | ||||||||
| Estimated Primary Completion Date | February 1, 2022 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria |
Inclusion criteria:
Exclusion criteria:
|
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| Sex/Gender |
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| Ages | Child, Adult, Older Adult | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts |
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| Listed Location Countries | France | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT04919655 | ||||||||
| Other Study ID Numbers | RECHMPL21_0086 | ||||||||
| Has Data Monitoring Committee | No | ||||||||
| U.S. FDA-regulated Product |
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| IPD Sharing Statement |
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| Responsible Party | University Hospital, Montpellier | ||||||||
| Study Sponsor | University Hospital, Montpellier | ||||||||
| Collaborators | GEHU - Duve Institute - Bruxelles | ||||||||
| Investigators |
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| PRS Account | University Hospital, Montpellier | ||||||||
| Verification Date | May 2021 | ||||||||