NCT04919655

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
• Phase: —
• Study type: Observational
• Enrollment: 31 (estimated)
• Sponsor: University Hospital, Montpellier · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Conditions

• Primary Lymphedema

Timeline

• Start date: 2021-02-01
• Primary completion: 2022-02-01
• Completion: 2022-02-20
• First posted: 2021-06-09
• Last updated: 2021-06-09

Locations

1 site across 1 country: France