Congenital Adrenal Hyperplasia (CAH)—a group of rare genetic disorders affecting the adrenal gland—occurs in approximately 1 in 16,000 children each year, and these rare cases present significant challenges for patients, parents and doctors. Without proper treatment, it can be a life-threatening condition, but treating it can be difficult for doctors. That’s why the endocrine team at Children’s of Alabama is participating in an international pediatric, phase 2 trial called CAHtalyst to investigate a new nonsteroidal treatment.
The treatment, Crinecerfont, may improve adrenal hormone balance by tamping down excess androgen production. The drug has already shown efficacy and safety in adult CAH trials, and Gail J. Mick, MD, director of the Children’s endocrine newborn screening program, says she’s delighted that Children’s can participate in the study. “The families are excited about new CAH research because they want new therapeutic options,” she said.
CAH, which can occur in multiple forms, affects the adrenal gland’s ability to produce cortisol, a hormone critical for life, and aldosterone, a hormone that regulates salt and water balance. The most common form of CAH occurs due to a deficiency of the adrenal enzyme 21-hydroxylase. Without this enzyme, affected individuals are at risk of a life-threatening adrenal crisis as well as adrenal androgen overproduction.
Doctors in the Children’s of Alabama’s endocrine newborn screening program specialize in helping newborns with CAH, which is one of more than 30 disorders screened for at birth by Alabama’s newborn screening program. At Children’s, newborns who screen positive for CAH are immediately evaluated for emergency care and management. To help parents and children with CAH, the Children’s Division of Endocrinology and Diabetes provides comprehensive care to nearly 100 CAH patients per year.
Treatment involves infusions of steroids and fluids, followed by carefully titrated doses of cortisol and mineralocorticoids. It’s not always easy. “It’s a very delicate balance to mimic normal adrenal function with oral medications,” Mick said. Give too much glucocorticoid, and you can suppress growth and expose patients to adverse steroid side effects. Give too little, and the adrenal gland overproduces androgens, which can spur early puberty and excess growth as well as other complications.
The adrenal imbalance is even more complex when children are sick and can’t take their medications. In those cases, parents must administer injectable glucocorticoids and seek emergency medical care. For this reason, routine childhood illnesses put a tremendous strain on parents.
Extra support is essential, Mick says. CAH is challenging to manage, given individual nuances in adrenal insufficiency and the impact of growth and puberty on medical management. “We offer special teaching and support for the parents in those early years as far as understanding how and when to give steroids and hormones to prevent adrenal crisis,” said nurse practitioner Leslie Pitts MSN, AC-PNP, CDE.
The CAH and endocrine newborn screening clinic also serves as an important resource for pediatric providers throughout the region. “Providers consult with us when they have abnormal newborn screens on their patients,” Pitts said. “They know we’re available to answer questions and concerns regarding CAH diagnosis and management.”
Pitts and Mick stress the key role that parents play in managing their child’s CAH. “Hats off to the families of children with CAH,” Mick said. “They are a motivated community who support one another, advocate for CAH research and treatment, and have even put together a highly popular ‘Camp Cortisol’ at Children’s Harbor at Lake Martin.”
“These are really quite extraordinary families,” Pitts said. And they may have a brighter future thanks to clinical trials like CAHtalyst. Mick predicts that in the next couple of years, they’ll have access to many more treatment options that will make the condition easier to live with.