Lymphangioleiomyomatosis, a Study on Cathepsin K (LAM-CAK)

Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates

This is a physiopathological case-control, non-interventional, monocentric study of adult patients with lymphangioleiomyomatosis. The controls are patients followed in neurology at the CHU of Tours for a tuberous sclerosis complex without lymphangioleiomyomatosis, the healthy volunteers are women with neither pulmonary nor renal pathology and recruited at the clinical investigation centre of the CHU of Tours.

Study Overview

• Status: Completed
• Conditions: Tuberous Sclerosis Complex; Lymphangioleiomyomatosis
• Intervention / Treatment: Other: 24h urine; Other: urine sample

• Study Type: Observational
• Enrollment (Actual): 19

Contacts and Locations

Study Locations

• France
  • Tours, France, 37044
    • University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Adult female patients with lymphangioleiomyomatosis or with tuberous sclerosis complexwithout AML or healthy volunteers

Description

Inclusion criteria for patients with lymphangioleiomyomatosis

• Age ≥ 18 years
• Female carrier of lymphangioleiomyomatosis according to ERS criteria

Inclusion criteria for healthy female volunteers

• Age ≥ 18 years
• Women with no history of lymphangioleiomyomatosis, pulmonary, renal or osteoporotic disease

Inclusion criteria for tuberous sclerosis complex patients without lymphangioleiomyomatosis

• Age ≥ 18 years
• Woman followed for tuberous sclerosis complex for whom a chest CT scan less than 3 years old does not objectify a pulmonary cyst. (= without lymphangioleiomyomatosis)

Non-inclusion criteria

• Woman under judicial protection
• Woman with a urinary tract infection within 15 days
• Person who objected to the data processing

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patientes with lymphangioleiomyomatosis; no intervention administered. Recruitment in pneumology department	Other: 24h urine; Urine samples will be collected at home over 24 hours; Other: urine sample; A urine sample of 20cc will be collected
Patientes with tuberous sclerosis complex without Lymphangioleiomyomatosis; no intervention administered. Recruitment in neurology department	Other: 24h urine; Urine samples will be collected at home over 24 hours; Other: urine sample; A urine sample of 20cc will be collected
Healthy women volunteers; no intervention administered. Recruitment in clinical investigation centre	Other: 24h urine; Urine samples will be collected at home over 24 hours; Other: urine sample; A urine sample of 20cc will be collected

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
urine cathepsin K proteins levels	comparison of urine cathepsin K protein levels in the 3 groups	inclusion visit
urine cathepsin K activity	comparison of urine cathepsin K activity in the 3 groups	inclusion visit

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
urinary quantity of cystatin C	comparison of urine cystacin C quantity in the 3 groups	inclusion visit
urinary quantity C and N-telopeptides of type 1 collagen	comparison in the 3 groups	inclusion visit
serum level of chondroitin sulphates	measurement in lymphangioleiomyomatosis patients	inclusion visit
renal angiolipomas	measurement of the size of renal angiomyolipomas in lymphangioleiomyomatosis patients	inclusion visit
FEV1 measurement	most recent FEV1 measurement as % of predicted value in lymphangioleiomyomatosis patients	inclusion visit
VEGF-D measurement	most recent measurement of VEGF-D blood levels in lymphangioleiomyomatosis patients	inclusion visit
T-score measurement	T-score measurement of the most recent bone densitometry in lymphangioleiomyomatosis patients	inclusion visit

Collaborators and Investigators

• Sponsor: University Hospital, Tours
• Investigators: Principal Investigator: Sylvain MARCHAND-ADAM, University Hospital, Tours

Study record dates

Study Major Dates

• Study Start (Actual): May 31, 2022
• Primary Completion (Actual): October 30, 2022
• Study Completion (Actual): October 30, 2022

Study Registration Dates

• First Submitted: April 4, 2022
• First Submitted That Met QC Criteria: April 4, 2022
• First Posted (Actual): April 12, 2022

Study Record Updates

• Last Update Posted (Actual): March 29, 2023
• Last Update Submitted That Met QC Criteria: March 28, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: urine
• Additional Relevant MeSH Terms: Nervous System Diseases; Immune System Diseases; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Congenital Abnormalities; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Lymphangiomyoma; Lymphatic Vessel Tumors; Perivascular Epithelioid Cell Neoplasms; Neurocutaneous Syndromes; Hamartoma; Neoplasms, Multiple Primary; Lymphangioleiomyomatosis; Tuberous Sclerosis
• Other Study ID Numbers: DR220020

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No