Clinical trial NCT02194582: Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure
Official title: Molecular and Genetic Analysis of Inherited Kidney Dysfunction
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Focal Segmental Glomerulosclerosis
Nephrotic Syndrome
End Stage Renal Disease
Kidney Failure
Unexplained Proteinuria
Keywords: FSGS
NS
Kidney disease
Kidney failure
Renal disease
nephrotic syndrome
focal segmental glomerulosclerosis
familial kidney disease
minimal change disease
proteinuria
Lead sponsor: Beth Israel Deaconess Medical Center
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
name: United States Department of Defense
First posted: 2014-07-18
Enrollment: 2050
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: We are recruiting subjects who have kidney disease, family members of a person with kidney disease, and healthy controls.

Brief summary: The investigators are trying to learn more about the cause of kidney diseases such as Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic syndrome by studying genetics. The investigators are interested in discovering which genes play a role in causing a predisposition to FSGS/NS. The investigators also want to learn why FSGS/NS can run in families. Participation in our study involves a saliva sample and a urine sample that you can give from home. There is no cost to participate. All information is kept private and confidential. The investigators also like to include healthy volunteers (parents, spouses) if interested/available but of course this is completely optional.

Detailed description: The investigators welcome anyone (with or without a family history) with unexplained, non syndromic FSGS, nephrotic syndrome, or proteinuria to join the study. Participation involves a saliva (or blood if it is preferable) sample and urine sample (if applicable). There is no cost to participate and the study can be done from home in most cases.

Eligibility criteria: Inclusion Criteria:

* Subjects with FSGS (focal segmental glomerulosclerosis)
* Subjects with NS (nephrotic syndrome)
* Subjects with unexplained kidney failure (have had a transplant or on dialysis)
* Subjects with unexplained proteinuria
* Family members of a person with FSGS, NS, kidney failure, or unexplained protein in their urine
* Healthy volunteers

Exclusion Criteria:

* Patients whose kidney disease is already explained by another syndrome such as (Branchio Oto Renal Syndrome or Alports syndrome)
* Patients who already know the genetic cause of their kidney disease

Primary outcomes:
measure: To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families
timeFrame: 2035
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: BIDMC
state: Massachusetts
Study officials:
affiliation: Beth Israel Deaconess Medical Center
name: Martin R Pollak, MD
role: PRINCIPAL_INVESTIGATOR
References: