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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patientes with lymphangioleiomyomatosis | no intervention administered. Recruitment in pneumology department |
| |
| Patientes with tuberous sclerosis complex without Lymphangioleiomyomatosis | no intervention administered. Recruitment in neurology department |
| |
| Healthy women volunteers | no intervention administered. Recruitment in clinical investigation centre |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 24h urine | Other | Urine samples will be collected at home over 24 hours |
|
| 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 |
| 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 |
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Inclusion criteria for patients with lymphangioleiomyomatosis
Inclusion criteria for healthy female volunteers
Inclusion criteria for tuberous sclerosis complex patients without lymphangioleiomyomatosis
Non-inclusion criteria
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Adult female patients with lymphangioleiomyomatosis or with tuberous sclerosis complexwithout AML or healthy volunteers
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| Name | Affiliation | Role |
|---|---|---|
| Sylvain MARCHAND-ADAM | University Hospital, Tours | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University hospital | Tours | 37044 | France |
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| ID | Term |
|---|---|
| D018192 | Lymphangioleiomyomatosis |
| D014402 | Tuberous Sclerosis |
| ID | Term |
|---|---|
| D008203 | Lymphangiomyoma |
| D018190 | Neoplasm, Lymphatic Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
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| ID | Term |
|---|---|
| D014554 | Urination |
| ID | Term |
|---|---|
| D014553 | Urinary Tract Physiological Phenomena |
| D012101 | Reproductive and Urinary Physiological Phenomena |
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urine
| urine sample | Other | A urine sample of 20cc will be collected |
|
| 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 |
| D054973 |
| Perivascular Epithelioid Cell Neoplasms |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D008232 | Lymphoproliferative Disorders |
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D007160 | Immunoproliferative Disorders |
| D007154 | Immune System Diseases |
| D006222 | Hamartoma |
| D009378 | Neoplasms, Multiple Primary |
| D009386 | Neoplastic Syndromes, Hereditary |
| D065703 | Malformations of Cortical Development, Group I |
| D054220 | Malformations of Cortical Development |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020752 | Neurocutaneous Syndromes |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |