About This Project

Congenital adrenal hyperplasia (CAH) is a disorder that affects the production of hormones critical for maintaining blood sugar, fluid/electrolyte levels, and normal pubertal development. Current methods to monitor CAH are expensive and have a long turnaround time. Our goal is to develop an assay to measure hormone levels that is accurate, easy, and cost-effective. In doing so, we aim to serve these patients both in managing their medical needs and developing new ways to reduce the cost of care.

Ask the Scientists

What is the context of this research?

CAH is an inherited condition that affects the adrenal glands and causes hormonal imbalances. To guide treatment strategies, hormone levels need to be measured on a regular basis. However, reference laboratories charge at least $360 to measure hormone levels, which is cost-prohibitive for the Clinic for Special Children's uninsured patients. This barrier to access results in less frequent monitoring and increased rates of disease complications.

Over the past year, we developed a method to measure one hormone, DHEA, from filter paper cards. This was an important milestone for the treatment and care of our patients suffering from CAH.

To further improve care, we are now developing a method to measure another important hormone, adrenocorticotropic hormone (ACTH) in-house at the Clinic.

What is the significance of this project?

In order to prevent damage from overactive adrenal glands, some hard-to-manage patients have their adrenal glands removed. Once the adrenal glands are removed, the only way to monitor the child's disease is with ACTH hormone levels.

Sending blood to a reference laboratory for ACTH quantification costs up to $243 per sample and results can take up to 2 weeks to arrive. Not only is the testing price prohibitive, but the long turn-around time is also unacceptable for a child without adrenal glands, who needs careful monitoring and medication dose titration.

Measuring ACTH from blood spots on a filter paper card, at the CSC, will provide a faster and more cost-effective service for our patients so that children have the quickest and best monitoring method tailored to their care.

What are the goals of the project?

We are working with Franklin and Marshall College (a long-established collaborator) to develop and assess a protocol to measure ACTH on an LC-MS/MS instrument. Once we have a method to reliably detect ACTH on the mass spectrometer, we will develop and validate the method of extracting ACTH from filter paper cards.After validation to ensure precision and accuracy of our methods, we will certify the new assay in our CLIA certified laboratory so that it can be used as a clinical test for our patients. The success of this agenda will offer patients a test in our laboratory that will improve their care and further reform current monitoring strategies of CAH.