Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)

• Conditions: Primary Lymphedema

• Registration Number: NCT04919655
• Lead Sponsor: University Hospital, Montpellier

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 Timeline

• Study Start: 2021-02-01
• Study First Submitted: 2021-03-18
• Status Verified: 2021-05
• Study First Submitted QC: 2021-06-02
• Last Update Submitted: 2021-06-02
• Study First Posted: 2021-06-09
• Last Update Posted: 2021-06-09
• Primary Completion: 2022-02-01
• Study Completion: 2022-02-20

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 31

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Presence of unilateral lymphedema of lower limbs	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.	day 1	Describe the morphological and functional pattern of the CELSR1 mutation with the imaging exploration

Secondary Outcome Measures

Name	Time	Method
determine if deactivator mutation of CELSR1	day 1	determine if deactivator mutation of CELSR1 is associated with : * Great saphenous vein anatomical variation; * kidney's anomalies

Trial Locations

Locations (1)

Uhmontpellier; 🇫🇷 Montpellier, France