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

Primary Lymphedema Clinical Trial

— CELSR1  

Official title:

Clinical and Functional Expression Associated With CELSR1 Mutations in Primary Lymphedema of Lower Limbs

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04919655
• Other study ID #: RECHMPL21_0086
• Status: Recruiting
• Start date: February 1, 2021
• Est. completion date: February 20, 2022

Study information

• Verified date: May 2021
• Source: University Hospital, Montpellier
• Contact: MESTRE GODIN Sandrine, MD, PhD
• Phone: 467337028
• Email: s-mestre[@]chu-montpellier.fr
• Is FDA regulated: No
• Study type: Observational

Clinical 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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 31
• Est. completion date: February 20, 2022
• Est. primary completion date: February 1, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Lymphedema
• Primary Lymphedema

Locations

Country	Name	City	State
France	Uhmontpellier	Montpellier

Sponsors (2)

Lead Sponsor	Collaborator
University Hospital, Montpellier	GEHU - Duve Institute - Bruxelles

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	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