Hundreds of thousands of children are born each year with a metabolic disorder and others acquire them during their childhood years. Over the past several years, there have been significant advances in mass spectrometry that enable determination of a person’s global metabolic profile. In this context, the purpose of this study is to acquire metabolic profiles using cutting-edge mass spectrometry instrumentation in order to detect health and identify metabolic disorders.
We would like to learn how to routinely profile metabolites and lipids from blood and urine and analyze the data in order to robustly detect aberrant molecules in patients with metabolic disorders relative to matching controls.
This project will serve as a valuable resource for both scientific and clinical application.
Metabolites are small molecules involved in metabolism. They have key biological functions including energy, structure and signalling. Metabolite abundances are encoded in the genome and influenced by the environment (i.e. food and lifestyle).
The metabolome is the collection of all the metabolites in a cell, tissue or organism.
Metabolomics is a field of research that focuses on the unbiased detection of a large collection of metabolites. Metabolomics measures the functional readout of activity and phenotype, thus it is becoming a key player in the field of precision medicine. Metabolomics is at the crossroads of analytical chemistry, biology and computer science.
A metabolic disorder or disease is defined by a specific abnormality in metabolism. There are a wide range of metabolic disorders and diseases.
We recommend referring to the metabolic disorders and diseases list on the website of the National Institute of Health, Genetic and Rare Diseases Center.
After your child has been consented to participate in the study, we will notify your child’s treating physician to order the labs to be done. This could be the collection of blood and/or urine. These labs can coincide with other labs the treating physician may have ordered, and is typically done in this fashion. This is a one-time sample collection.
Most metabolic diseases in newborns and kids are inherited from defective genes that control metabolism.
Once your child’s sample has been collected, it will be processed and placed into a freezer before being analyzed using cutting-edge mass spectrometry instrumentation used to detect thousands of molecules.
Since our project is in very early stages, we have not fully analyzed our samples and do not anticipate being able to provide individual level results for several years. We will only notify your child’s treating physician if there is a clinically significant result identified by the study. Not all participants receive results. This is an early-stage research study, and is not a substitute for the excellent clinical care that your child’s doctor is already providing at the Stanford clinic or Lucile Packard Children’s Hospital.
We will provide periodic updates about the progress of the study on our website.
There is no cost to you for participating. Your health insurance will not be billed.
Patient privacy is extremely important to us and great care has been taken to institute a procedure that protects a participants sample and genetic data derived from it. All genetic and medical data will be protected under current privacy standards and procedures at Stanford Hospital and Clinics, including the use of unique, anonymous identifiers for samples and extensive network security measures.
You can change your mind about participation at any time*. Please notify Casandra A. Trowbridge, the study's administrative and operations director, at firstname.lastname@example.org
Your banked samples will be destroyed and no further research will be done with your samples.
*However, if any genetic data was deposited into an NIH database, this cannot be retrieved. We only submit genetic data to the NIH with your consent.