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Protocol Details

Genetic Markers for Focal Segmental Glomerulosclerosis

This study is 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: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: N/A
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

HIV;
Renal Disease;
African-Americans;
HIV Associated Nephropathy

Recruitment Keyword(s)

None

Condition(s)

AIDS Associated Nephropathy;
Focal Glomerulosclerosis;
HIV Infections

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 CRITERIA:

All patients with idiopathic FSGS and idiopathic and HIV-associated collapsing glomerulopathy, and kidney donors are eligible.

AFRICAN-AMERICANS WITH FSGS:

Renal biopsy showing FSGS or collapsing glomerulopathy, including HIV-associated collapsing glomerulopathy (HIV-associated nephropathy).

We will include adult and pediatric patients.

OTHER PATIENTS WITH FSGS:

Renal biopsy showing FSGSor collapsing glomerulopathy, including HIV-associated collapsing glomerulopathy (HIV-associated nephropathy).

We will include adult and pediatric patients.

AFRICAN AMERICANS 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 less than 0.5 or 24 hour urine protein excretion less than 500 mg/d.

AFRICAN AMERICAN BLOOD DONORS (CONTROLS):

We will include adults only.

HEALTHY CAUCASIAN CONTROLS (CONTROLS):

These samples represent DNA already obtained.

RELATIVES OF PATIENTS WITH FSGS:

In selected families (in which a patient has been found to have a mutation in a FSGS risk gene whose pathologic role has not been established), we will obtain individual histories of renal disease (hematuria, proteinuria, hypertension,nehrolithiasis) 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 less than 18 years by obtaining a urine sample; if urinalysis and urine protein excretion are normal, we will not a request a blood sample.

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. Dr. Cho, as part of another protocol, will measure urinary albumin and kidney size (which by comparison with radiologic studies done at the time of kidney donation will allow determination of kidney hypertrophy following donation). 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.

EXCLUSION CRITERIA:

AFRICAN-AMERICANS WITH FSGS:

We will exclude patients with hyperfiltration FSGS (reduced renal mass, chronic interstitial nephritis, sickle cell anemia, obesity with BMI greater than 40 kg/m(2)).

OTHER PATIENTS WITH FSGS:

No patients with hyperfiltration FSGS (reduced renal mass, chronic interstitial nephritis, sickle cell anemia, obesity with BMI greater than 40 kg/m(2)).

AFRICAN AMERICAN BLOOD DONORS (CONTROLS):

HIV-1 infection.

Renal disease.

HEALTHY CAUCASIAN CONTROLS (CONTROLS):

Patients will not be recruited as part of the present study.


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Citations:

Effect of race on expression of acquired immunodeficiency syndrome-associated nephropathy

Host-virus interactions and the molecular regulation of HIV-1: role in the pathogenesis of HIV-associated nephropathy

Mapping by admixture linkage disequilibrium in human populations: limits and guidelines

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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 3N116
10 CENTER DR
BETHESDA MD 20814
(301) 594-3403
jeffreyk@mail.nih.gov

Anaida Widell
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Building 10
Room 3N112
10 Center Drive
Bethesda, Maryland 20892
(301) 451-9946
awidell@cc.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00001393

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