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

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04919655

Acronym

CELSR1

Enrollment

Registered

2021-06-09

Start date

2021-02-01

Completion date

2022-02-20

Last updated

2021-06-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Lymphedema

Keywords

CELSR1, primary lymphedema of lower limbs, lymphedema

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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

Countries

France

Contacts

Primary ContactMESTRE GODIN Sandrine, MD, PhD

s-mestre@chu-montpellier.fr467337028

Backup ContactAurélie LAY, résident

a-lay@chu-montpellier.fr4 67 33 70 28

Outcome results