Clinical trial NCT04160507: Duke APOL1 Research Biorepository
Official title: Duke APOL1 Research Biorepository
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: End Stage Kidney Disease
Keywords: ESKD
APOL 1 gene
Kidney Disease
Lead sponsor: Duke University
Sponsor class: OTHER
First posted: 2019-11-13
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Mutation in ApoL1 gene is associated with increased risk of non-diabetic kidney disease in individuals of recent African descent-i.e., only black people are affected. Therefore, black adult cases with non-diabetic nephropathy or healthy controls aged 18 years or older will be recruited for consent into the DANB.

Caucasians do not have these ApoL1 mutations nor the associated kidney disease. Therefore, majority of subjects recruited for this study will be self-identified African Americans, Afro-Caribbean and other black individual. Study subjects will include individuals at various stages of kidney disease and those without any clinical evidence of kidney disease.

Brief summary: The Duke ApoL1 Nephropathy Biorepository aims to address needs within non-diabetic kidney failure research by utilizing existing and, when necessary, developing new infrastructure to support the consent of patients and the collection of dedicated samples for ApoL1 Nephropathy biorepository.

The mutations in ApoL1 gene that are strongly associated with kidney disease are only present in individuals of recent African ancestry (i.e., black people). Caucasians do not have these ApoL1 mutations nor the associated kidney disease. Therefore, majority of subjects recruited for this study will be self-identified African Americans, Afro-Caribbean and other black individual. Study subjects will include individuals with end stage kidney disease and those without any clinical evidence of kidney disease.

Additionally, healthy black adults with no known history of kidney disease will be recruited as controls in this study because they are the only group that can fill this role.

Detailed description: The risk of end stage kidney failure among African Americans is 4 times that of Caucasian Americans. This excess risk of kidney failure is largely attributable to mutations in apolipoprotein L1 gene. While 10-15% of African Americans in the United States possess kidney disease-associated ApoL1 mutations, nearly 40% of African Americans on dialysis have these mutations. There are significant gaps in the understanding of the pathophysiology of ApoL1-nephropathy. Only some of the people with ApoL1 mutations develop kidney failure. The pathways that link ApoL1 mutations with end stage kidney failure are not understood. Because kidney biopsy is generally obtained from patients with evidence of kidney disease-whose kidneys have experienced significant damage and sclerosis-access to the relevant kidney cells is very limited. However, recent advancements in biomedical research have made it possible to develop kidney-like cells from inducible pluripotent stem cells (iPSCs) which were derived from blood cells of individuals. This innovative technique will allow us to generate iPSC-derived cells from the blood of individuals who have developed ApoL1-nephropathy for the purpose studying them in research lab so as to decipher the cellular mechanism of their kidney failure.

Eligibility criteria: Inclusion Criteria:

* Majority of subjects recruited for this study will be self-identified African Americans, Afro-Caribbean and other black individuals. Study subjects will include individuals at various stages of kidney disease and those without any clinical evidence of kidney disease.
* Healthy black adults, age 50 and older with no known history of kidney disease will be recruited as controls

Exclusion Criteria:

* Black adult cases with diabetic nephropathy
* Healthy controls with kidney disease

Primary outcomes:
measure: Biorepository
timeFrame: 5 years
Secondary outcomes:
measure: Future study samples
timeFrame: 5 years
Other outcomes:
measure: Understanding the mechanisms by which mutations in ApoL1 gene cause kidney disease, including identification of cellular and epigenetic risk factors
timeFrame: 5 years
Locations:
city: Durham
country: United States
facility: Duke University Medical Center
state: North Carolina
Study officials:
References: