The BIGKiDs Study is a biobank that holds the health information and biosamples (like blood or saliva) from patients with kidney disease at Boston Children’s and eventually in the US and abroad.  It allows researchers to conduct studies on a variety of diseases, conditions and disorders including nephrotic syndrome. 

The BIGKiDs Study also empowers patients and families to engage with the nephrotic syndrome community. Your participation will help contribute to our research mission to improve the medical care doctors everywhere provide. 

At the Sampson Lab, we study various forms of nephrotic syndrome through applied genomics, which is a kind of science that examines how genes can be used to diagnose and identify treatments for disease. Nephrotic syndrome is a rare kidney disease that results from damage in the kidney’s filtering units, called glomeruli. Our team is interested in how genetic changes can be linked with nephrotic syndrome. By understanding these genetic changes, we can learn to identify the causes and improve the prognosis and treatment of nephrotic syndrome.

The lab’s director, or “Principal Investigator,” is Dr. Matt Sampson. He is a pediatric nephrologist (kidney doctor) and researcher who is dedicated to connecting how genetics could help make more precise diagnosis that could lead to improved health of children.

Our eligibility criteria is anyone with childhood-onset nephrotic syndrome. This includes:

• patients who respond to steroids and other immunosuppressant medications

• patients who are resistant to steroids and other immunosuppressant medications

• those without a family history of nephrotic syndrome

• those with family members impacted by nephrotic syndrome

Participation is always voluntary and participants can withdraw at any time.

There are NO additional costs to you or your insurance company for participation in the study.

We are so grateful for the families who participate in our research. Without you, none of our work would be possible. By joining this study, you will be supporting researchers in their efforts to find better ways to detect, treat, prevent, or even cure kidney and urinary tract disorders and other diseases and conditions.

We will fully explain the study to you and provide a research consent form to sign if you choose to participate.

You will be asked to give permission to:

• Collect and store samples that are no longer needed for clinical care

• Collect and store other samples such as saliva, blood*, urine, and extra biopsy tissue, excess surgical tissue not needed for clinical care

• Collect health information from you and your doctor

• Study your samples and health information

• Contact you again in the future with questions or to voluntarily contribute additional samples. Also, to ask if you are interested in joining other research studies

*If you and/or your child volunteer to contribute a sample of blood; it can be added on to the next clinical blood draw.

A biobank is like a library, except instead of books, it holds health information and samples that researchers can use to study different things. We hope that by creating a biobank for rare conditions like nephrotic syndrome, that we’ll be able to help speed up research and find treatments faster.

Biosamples are materials collected from the human body which can include saliva, blood, and urine. Biosamples can give us important information to help discover causes of a patient’s nephrotic syndrome as well as consequences of the patient’s nephrotic syndrome.

• Cheek swabs and saliva help us uncover DNA sequencing, which allows us to identify genes that are common in patients with nephrotic syndrome.

• Blood samples can show us a complete set of genes that can help us look at proteins, DNA, and phenotype.

• Urine tells us what type of cells or proteins are in a person's body. Doctors often use urine samples for diagnosis and identifying disease status.

• Kidney tissue gives us the ability to study the different kinds of cells inside the kidney and how they impact nephrotic syndrome. This gives us the closest look into what is exactly happening within the kidney in patients with nephrotic syndrome and other conditions to which we can compare it.

The samples and health information will be securely stored by the BIGKiDs study and will contribute to furthering our research and understanding of kidney and urinary tract disorders or diseases.

If your samples and information are shared outside of BIGKiDs, we would remove information that could be used to identify you, such as your name, and would be labeled with only a research code in order to protect your privacy and confidentiality. Approved researchers can use the samples for a broad range of studies, such as:

• Identification of biomarkers predicting clinical conditions

• Creation of “cell lines” to model certain health conditions

• Study of genes associated with specific disorders

• Examination of tissue under a microscope to better understand disease states

Our team is ready to answer your questions! Please email us at bigkids.biobank@childrens.harvard.edu .

Thank you for considering participating in this study!