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

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

Study Overview

• Status: Recruiting
• Conditions: 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 Type: Observational
• Enrollment (Anticipated): 31

Contacts and Locations

• Study Contact: Name: MESTRE GODIN Sandrine, MD, PhD; Phone Number: 33 467337028; Email: s-mestre@chu-montpellier.fr
• Study Contact Backup: Name: Aurélie LAY, résident; Phone Number: 33 4 67 33 70 28; Email: a-lay@chu-montpellier.fr

Study Locations

• France
  • Montpellier, France, 34295
    • Recruiting
    • UHMontpellier
    • Contact: MESTRE GODIN Sandrine; Phone Number: 33 467337028; Email: s-mestre@chu-montpellier.fr
    • Contact: Stéphanie BADOUAILLE; Phone Number: 33 4 67 33 70 28

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• 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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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	day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
determine if deactivator mutation of CELSR1	determine if deactivator mutation of CELSR1 is associated with : Great saphenous vein anatomical variation; kidney's anomalies	day 1

Collaborators and Investigators

• Sponsor: University Hospital, Montpellier
• Collaborators: GEHU - Duve Institute - Bruxelles
• Investigators: Principal Investigator: MESTRE GODIN Sandrine, University Hospital, Montpellier

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2021
• Primary Completion (Anticipated): February 1, 2022
• Study Completion (Anticipated): February 20, 2022

Study Registration Dates

• First Submitted: March 18, 2021
• First Submitted That Met QC Criteria: June 2, 2021
• First Posted (Actual): June 9, 2021

Study Record Updates

• Last Update Posted (Actual): June 9, 2021
• Last Update Submitted That Met QC Criteria: June 2, 2021
• Last Verified: May 1, 2021

More Information

Terms related to this study

• Keywords: lymphedema; CELSR1; primary lymphedema of lower limbs
• Additional Relevant MeSH Terms: Lymphatic Diseases; Lymphedema
• Other Study ID Numbers: RECHMPL21_0086

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: NC

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No