Status:
UNKNOWN
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
Lead Sponsor:
University Hospital, Montpellier
Collaborating Sponsors:
GEHU - Duve Institute - Bruxelles
Conditions:
Primary Lymphedema
Eligibility:
All Genders
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...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
February 1 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
February 20 2022
Estimated Enrollment :
31 Patients enrolled
Trial Details
Trial ID
NCT04919655
Start Date
February 1 2021
End Date
February 20 2022
Last Update
June 9 2021
Active Locations (1)
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1
Uhmontpellier
Montpellier, France, 34295