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| ID | Type | Description | Link |
|---|---|---|---|
| 5RC2DK122397 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | NIH |
| United States Department of Defense | FED |
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The investigators are trying to learn more about the cause of kidney diseases such as Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic syndrome by studying genetics. The investigators are interested in discovering which genes play a role in causing a predisposition to FSGS/NS. The investigators also want to learn why FSGS/NS can run in families. Participation in our study involves a saliva sample and a urine sample that you can give from home. There is no cost to participate. All information is kept private and confidential. The investigators also like to include healthy volunteers (parents, spouses) if interested/available but of course this is completely optional.
The investigators welcome anyone (with or without a family history) with unexplained, non syndromic FSGS, nephrotic syndrome, or proteinuria to join the study. Participation involves a saliva (or blood if it is preferable) sample and urine sample (if applicable). There is no cost to participate and the study can be done from home in most cases.
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| Measure | Description | Time Frame |
|---|---|---|
| To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families | This is an ongoing study for research purposes only. | 2035 |
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Inclusion Criteria:
Exclusion Criteria:
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We are recruiting subjects who have kidney disease, family members of a person with kidney disease, and healthy controls.
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| Name | Affiliation | Role |
|---|---|---|
| Martin R Pollak, MD | Beth Israel Deaconess Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| BIDMC | Boston | Massachusetts | 02215 | United States |
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| Label | URL |
|---|---|
| BIDMC - Pollak Lab Website | View source |
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| ID | Term |
|---|---|
| D005923 | Glomerulosclerosis, Focal Segmental |
| D009404 | Nephrotic Syndrome |
| D007676 | Kidney Failure, Chronic |
| D051437 | Renal Insufficiency |
| D007674 | Kidney Diseases |
| D009402 | Nephrosis, Lipoid |
| D011507 | Proteinuria |
| ID | Term |
|---|---|
| D005921 | Glomerulonephritis |
| D009393 | Nephritis |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
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Usually saliva In some cases, a blood sample may be obtained In some cases, a urine sample may be requested
| D005261 |
| Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D009401 | Nephrosis |
| D051436 | Renal Insufficiency, Chronic |
| D002908 | Chronic Disease |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D014555 | Urination Disorders |
| D020924 | Urological Manifestations |
| D012816 | Signs and Symptoms |