Protocol Number: 94-DK-0133

Title:

Genetic Markers for Focal Segmental Glomerulosclerosis

Number:

94-DK-0133

Summary:

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.

Sponsoring Institute:

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

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

AFRICAN-AMERICANS WITH FSGS:

Renal biopsy showing FSGS.

We will include adult and pediatric patients with idiopathic FSGS and HIV-associated FSGS.

OTHER PATIENTS WITH FSGS:

Renal biopsy showing FSGS.

African Americans with HIV and without kidney disease (controls).

We will include adult and pediatric patients with idiopathic FSGS and HIV-associated FSGS.

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.

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.

Special Instructions: Currently Not Provided

Keywords:

HIV

Renal Disease

African-Americans

HIV Associated Nephropathy

Recruitment Keywords:

None

Conditions:

AIDS Associated Nephropathy

Focal Glomerulosclerosis

HIV Infections

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

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

Electronic Mail:prpl@mail.cc.nih.gov

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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