This page is dedicated to the Nephrotic Syndrome/Glomerular Disease research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Nephrotic Syndrome/Glomerular Disease research study, established at Boston Children’s in 2021 and led by Dr. Matthew Sampson, has enrolled 210 patients and their families. The study aims to identify genetic causes of nephrotic syndrome/glomerular disease and provide personalized medicine.

Disease information

Nephrotic syndrome/glomerular disease is a group of rare disorders that affect the kidney and cause the body to pass too much protein in the urine. Signs and symptoms include swelling, particularly in feet and ankles, foamy urine, and an increased risk of other health problems.

It is estimated that 30-80% of individuals with Nephrotic syndrome/glomerular disease have an underlying genetic cause for their condition. In his interview on Youtube, Dr. Sampson discusses how his genetic research helps clinicians better understand nephrotic syndrome to inform treatment and prognosis. Learn more about nephrotic syndrome at Boston Children’s. 

Participate in research

Physicians may refer their patients with Nephrotic syndrome/glomerular disease to Dr. Sampson. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Sampson’s research on the Sampson Lab webpage.

Patient care

Patients and their families with Nephrotic syndrome/glomerular disease can be seen by an expert multidisciplinary team in the Division of Nephrology at Boston Children’s.

Patient stories

Patients enrolled in this cohort have nephrotic syndrome of an unknown cause. Dr. Sampson and the team are utilizing the most cutting-edge approaches to making genetic diagnoses, if possible, ranging from rare protein-coding mutations and genes that are known to cause nephrotic syndrome to potentially discovering new genes that have never been implicated in this syndrome before. Profiling other molecular signatures of these patients, such as gene expression from the blood and skin, is enhancing diagnostic capabilities. While a definitive diagnosis leading to an improvement in care or development in treatment or cure has not been achieved yet, the ongoing research offers hope for the families that all clinically approved tools are being used to explore every possible avenue toward finding answers.  

Investigator

Matthew Sampson, MD, MS

Divisions

Nephrology

Notable publications by investigator

  1. Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.
  2. Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.
  3. Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.
  4. The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.
  5. A guide to gene-disease relationships in nephrology.
  6. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.
  7. APOL1 Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant.
  8. Pediatric contributions and lessons learned from the NEPTUNE cohort study.
  9. Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
  10. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
  11. Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.

Disease support organizations

NephCure

NephCure is the only kidney organization focused on nephrotic syndrome, FSGS, IgAN, and other rare, protein-spilling kidney diseases. The organization is creating a new reality where more rare kidney disease (RKD) therapies exist, and more patients get the care they need.

The Nephrotic Syndrome Foundation

The Nephrotic Syndrome Foundation is a nonprofit organization supporting those diagnosed with Nephrotic Syndrome, their families and the ongoing search for a cure.

Trusted sites

NORD Report