Yesterday, in observance of Rare Disease Day, Spruce Biosciences announced the launch of the CAH Natural History Study, an initiative to advance knowledge and awareness of congenital adrenal hyperplasia (CAH).
"World Rare Disease Day promotes awareness and support for people impacted by rare diseases. Our decision to launch the CAH Natural History Study in conjunction with this annual observance underscores our pledge to conduct research that generates real-world patient outcomes in CAH," said Dr. Alexis Howerton, CEO, Spruce Biosciences in a press release
"We believe this research will help transform the collective understanding and approach to treating CAH, helping patients and families get optimal care for generations to come."
CAH is a rare endocrine condition where the adrenal glands located above the kidney do not produce cortisol, the critical stress hormone the body needs to function. This influences a patient’s energy, blood pressure, and the body’s response to stress, illness and injury.
Symptoms of CAH vary by person, for instance, infant girls may be born with ambiguous genitalia due to an overabundance of testosterone produced by the body. Females can also experience excessive facial or body hair, irregular menstrual periods, or serious acne.
After birth, both male and female CAH patients can have health problems such as poor feeding, vomiting, dehydration, and an abnormal heart beat. These patients can also have early onset puberty, fast body growth, and premature completion of growth. Milder forms of the condition may not show signs until puberty.
The most common form of the disease is caused by a 21-hydroxylase deficiency, and affects 1 in every 10,000 to 15,000 people in the United States.
While all newborns are screened for 21-hydroxylase deficiency, a condition easily identified by physicians, there are no available FDA-approved therapies for CAH. Patients are often treated with high-dose steroids with significant side effects.
A Phase 2 clinical trial is currently being conducted to evaluate the safety and efficacy of SPR001, Spruce’s novel and clinically verified mechanism of actions, in adults with CAH. The drug is intended to correct hormone imbalance while reducing the burden of taking steroids, and adults with CAH are eligible to participate in the Phase 2 clinical trial.
The CAH Natural History Study
will collect health-related patient information and be a resource to educate and advocate for further research. In addition, it will serve as a recruitment database to enroll CAH patients into clinical trials for potential treatments. Patients over 12 years old, physicians, and researchers are welcome to join the study.