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Protocol Details

Genetic Markers for Focal Segmental Glomerulosclerosis

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

94-DK-0133

Sponsoring Institute

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 18 Mo
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Collapsing Glomerulopathy;
Renal Diseases;
HIV-associated nephropathy

Recruitment Keyword(s)

None

Condition(s)

Focal Segmental Glomerulosclerosis;
HIV-Associated Focal Segmental Glomerulosclerosis

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Diabetes and Digestive and Kidney Diseases

Glomerulonephritis is a disease which affect the kidneys. Occasionally these diseases can progress to a loss of kidney function in some patients. Glomerulosclerosis or focal segmental glomerulosclerosis (FSGS) is one form of glomerulonephritis.

The cause of FSGS is unknown and often occurs on its own (idiopathic), or it can be associated with HIV (Human Immunodeficiency Virus). FSGS occurs more commonly among black patients than Caucasian or Hispanic patients. Researchers believe that environmental factors may interact with genetic mutations to cause FSGS, at least in some patients.

This study will attempt to identify genetic factors associated with the development of FSGS. The study population will be made up of 600 total subjects divided into 3 groups. Group one will be 200 African-Americans with FSGS. Group two will be 200 African-Americans with HIV but without FSGS. Group three will be 200 non-African-Americans with FSGS.

Study participation requires that researchers obtain 20 ml (2 tubes of blood). The genetic material (DNA) will be prepared from the white blood cells and analyzed. The results of each group will be compared with the results from the other groups to determine if one or more genes predisposes to FSGS. In the long run, studies that demonstrate a genetic basis for FSGS may help us identify patients earlier and may lead to improved therapies.

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Eligibility

INCLUSION AND EXCLUSION CRITERIA, BY GROUP:

1) African-descent with FSGS: renal biopsy showing FSGS or collapsing glomerulopathy, including HIV-associated collapsing glomerulopathy (HIV-associated nephropathy). We will include adult and pediatric patients. We will exclude patients with hyperfiltration FSGS.

2) Other patients with FSGS (similar inclusion and exclusion criteria as in group 1).

3) African descent with HIV and without kidney disease (controls). We will include adult patients who have had serologically confirmed HIV-1 infection for at least 8 years and lack clinical renal disease, as evidenced by normal creatinine and urine protein/creatinine ratio <0.5 or 24 hour urine protein excretion <500 mg/d.

4) African descent (controls). We will include adults only. Exclusions will include HIV-1 infection, cardiovascular disease, and renal disease.

5) European and Asian descent (controls). These samples represent DNA already obtained by Dr. Winkler s group under IRB approved protocols and these patients will not be recruited as part of the present study.<TAB>

6) Relatives of patients with FSGS. In selected families (in which a patient has been found to have a mutation in an FSGS risk gene whose pathologic role has not been established), we will obtain individual histories of renal disease (hematuria, proteinuria, hypertension, nephrolithiasis) and will measure serum creatinine and urine protein excretion. We will include adults with and without renal disease and children with renal disease. We will evaluate children <18 years by obtaining a urine sample; if urinalysis and urine protein excretion are normal, we will not request a blood sample unless blood is being obtained for a clinical indication.

7) Kidney donors. We will include NIH kidney donors only. We will obtain individual histories that provide information as to age, sex, race, surgical and medical histories, and family history. Our purpose is to examine whether particular genetic variants, including those in MYH9, influence the ability of the kidney to undergo hypertrophy following renal donation or the propensity to manifest albuminuria as a sign of glomerular stress. These findings have the potential to extend our understanding of the biology of MYH9 and might have clinical relevance for selecting kidney donors.

8) Tamil population. We will recruit from a Tamil population. A Tamil will be defined as anyone that identifies themselves, their parents and their grandparents as Tamilian. We will ask these patients about their family history. We will exclude subjects under 18 and multiple subjects within the same family. We will draw blood for genetic testing. Our purpose is to determine whether particular genetic variants, including those in MYH9, are prevalent in a Tamilian population. If prevalence is indicated, we hope to study how these variants influence the progression of kidney disease in this population.

9) Women who are pregnant will be excluded from participating in the apheresis component of this protocol.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Jeffrey B. Kopp, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
BG 10 RM 3N114
10 CENTER DR
BETHESDA MD 20814
(301) 594-3403
jeffreyk@mail.nih.gov

Jeffrey B. Kopp, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
BG 10 RM 3N114
10 CENTER DR
BETHESDA MD 20814
(301) 594-3403
jeffreyk@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001393

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