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

NCT04919655 | Unknown

• 1 other identifier: RECHMPL21_0086
• Study Type: observational
• Target: 31
• Locations: 1 country
• Sites: 1

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

Conditions

Primary Lymphedema

Keywords

CELSR1; primary lymphedema of lower limbs; lymphedema

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (1)

• determine if deactivator mutation of CELSR1

  day 1

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• Patients who carry another mutation than CELSR1 responsible for primary lymphedema
• Syndromic form of primary lymphedema
• Patient not followed up at Montpellier University Hospital.

Sponsors & Collaborators

• University Hospital, Montpellier: lead
• GEHU - Duve Institute - Bruxelles: collaborator

Study Sites (1)

Uhmontpellier

Montpellier, 34295, France

RECRUITING

MeSH Terms

Conditions

Lymphedema

Condition Hierarchy (Ancestors)

Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Officials

• MESTRE GODIN Sandrine

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Central Study Contacts

MESTRE GODIN Sandrine, MD, PhD

CONTACT

467337028; s-mestre@chu-montpellier.fr

Aurélie LAY, résident

CONTACT

4 67 33 70 28; a-lay@chu-montpellier.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 18, 2021
• First Posted: June 9, 2021
• Study Start: February 1, 2021
• Primary Completion: February 1, 2022
• Study Completion: February 20, 2022
• Last Updated: June 9, 2021

Record last verified: 2021-05

Locations

FR (1)