Ongoing Studies

Research

CARES Foundation does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the study’s informed consent documentation and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members. For more information on research participation, check out https://www.hhs.gov/ohrp/education-and-outreach/about-research-participation/index.html

CAHtalog Registry – The CAHtalog Patient Registry provides a unique resource for researchers, offering de-identified data from diverse patient populations. These data serve as a foundation for analyses that can generate valuable insights leading to improvements in care for individuals with CAH. The CARES Foundation, Neurocrine Biosciences, and PicnicHealth invite you to explore CAHtalog to drive innovation in CAH research. Visit the CAHtalog Data Access Portal to learn more and apply for access to CAHtalog data, including opportunities for funding to support research using the registry data. Start exploring the possibilities today!

CAH Volunteers Needed for Natural History Study at NIH – Patients of all ages with CAH (both classic & nonclassic). For more information, please click here.

Crinetics – Calm-CAH (Adult) and Balance-CAH (Pediatric) Studies are looking to understand the safety and effectiveness of an investigational study drug, atumelnant, whether it may reduce the dosage needed for steroid medications like glucocorticoids (GCs), and how it may help manage symptoms of CAH. Learn more by clicking here.

Pinpoint Patient Recruiting – Participate in virtual research opportunities! : Pinpoint Patient Recruiting, a market research company, is searching for people who are interested in participating in ongoing virtual market research opportunities to help researchers better understand the experiences and opinions of people living with CAH and caregivers of children living with CAH. Learn more here.

CAH – Oura Ring Study (Mayo Clinic) – Using wearable technology to better understand symptoms, sleep, and health in people with congenital adrenal hyperplasia (CAH). Learn more here.

The CAH2032 Study is investigating crinecerfont, a drug already approved for adults and children over the age of 4, to determine its safety and effectiveness in younger children. Study Sponsor: Neurocrine Switzerland GmbH (NSG) | Study Team Email: nbi74788-cah2032clinical@neurocrine.com

Global Perspectives Study (Adult Survey Study) – The purpose of this online survey study is to understand symptoms and experiences with congenital adrenal hyperplasia (CAH) from the perspective of adults living with CAH. Learn more by clicking here.

Weill Cornell Medicine CAH Center: Current Research Projects

For more information on any of the below research proposals, please contact klin@med.cornell.edu

Natural history and clinical outcomes of males with non-classical CAH: This study will examine how often patients require treatment, how treatment affects height and puberty, and how hormone levels and bone development change during childhood and adolescence. We will also assess how patients do after reaching adulthood, including whether treatment is discontinued and whether certain genetic findings are associated with different clinical outcomes. The goal of this study is to improve understanding of this condition in males and help guide future care.
Prenatal genetic screening for CAH and outcomes: Clinicians often rely on factors such as perceived genetic risk based on parental phenotype or the infant’s sex to decide whether to pursue supplemental 17OHP testing. This study seeks to address this gap in clinical care by evaluating whether serum 17OHP measurement in infants with at least one carrier parent provides added diagnostic value for classical CAH beyond standard NBS alone. By characterizing the clinical outcomes and diagnostic findings in this specific population, we aim to inform the development of standardized care pathways that balance the need for early identification with the goal of avoiding unnecessary medical intervention.
Neurocrine Biosciences: A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Pediatric Subjects with Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment. Phase 3 study. Protocol number: NBI-74788-CAH2006. Weill Cornell Medicine is a site and has enrolled two subjects.
Long-term outcomes of CAH patients (age 18+) following reduction clitoroplasty