Lymphangioleiomyomatosis, a Study on Cathepsin K

Study Overview
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Brief Summary
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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.

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

Conditions
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Lymphangioleiomyomatosis, Tuberous Sclerosis Complex

Intervention / Treatment
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* Other: 24h urine
* Other: urine sample


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

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

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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urine