Genetic Markers for Focal Segmental Glomerulosclerosis

NCT00001393 | Completed

• 2 other identifiers: 94013394-DK-0133
• Study Type: observational
• Target: 616
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Focal Segmental Glomerulosclerosis; HIV-Associated Focal Segmental Glomerulosclerosis

Keywords

Collapsing Glomerulopathy; Renal Diseases; HIV-associated nephropathy; Natural History

Outcome Measures

Primary Outcomes (1)

• To develop a molecular understanding of racial differences in the incidence of podocyte diseases.

  Addressing the hypothesis that genetic variation contributes to the pathogenesis of idiopathic FSGS and collapsing glomerulopathy, both idiopathic and HIV-associated variants.

  Retrospective and Prospective

Study Arms (8)

African descent controls

Controls; adult healthy volunteers of African descent without kidney disease

African-Americans with FSGS

African-American patients with idiopathic or HIV-associated collapsing glomerulopathy

African-Americans with HIV

Hyper-normal controls; adult African-Americans with HIV and without kidney disease

European and Asian descent controls

Controls; healthy volunteers of European or Asian descent without kidney disease

Kidney donors

People donating kidneys at NIH

Other patients with idiopathic FSGS

Patients of other areas of descent with idiopathic FSGS

Relatives of patients with familial FSGS

Relatives of patients with familial FSGS

Tamils

Adults with Tamilian descent

Eligibility Criteria

• Age: 19 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population includes several distinct populations of FSGS patients and healthy controls: patients of African descent, patients of Tamilian descent, healthy participants of African, European, Asian, and Tamilian descent, as well as people of African descent with HIV but without FSGS and adults who donate kidneys at NIH. The purpose of collecting samples for genetic analyses from these groups is to discover genetic variations that could be associated with FSGS, which is especially prevalent in African-American and Tamil populations.

You may not qualify if:

• 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.
• 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.
• 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\>
• 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.
• 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.
• 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.
• Women who are pregnant will be excluded from participating in the apheresis component of this protocol.

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Glomerulosclerosis, Focal Segmental; Kidney Diseases; AIDS-Associated Nephropathy

Condition Hierarchy (Ancestors)

Glomerulonephritis; Nephritis; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; HIV Infections; Blood-Borne Infections; Communicable Diseases; Infections; Sexually Transmitted Diseases, Viral; Sexually Transmitted Diseases; Lentivirus Infections; Retroviridae Infections; RNA Virus Infections; Virus Diseases; Genital Diseases; Immunologic Deficiency Syndromes; Immune System Diseases

Study Officials

• Anirban Ganguli, M.D.

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: April 15, 1996
• Last Updated: April 24, 2026

Record last verified: 2025-12-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)