Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study

Richard J. Auchus, Departments of Pharmacology and Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, Ann Arbor, MI, United States.
Carine Courtillot, Department of Endocrinology and Reproductive Medicine, Center for Rare Endocrine and Gynecological Disorders, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Université, Paris, France.
Adrian Dobs, Department of Medicine, Division of Endocrinology and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Diala El-Maouche, Division of Endocrinology and Metabolism, George Washington University, Washington, DC, United States.
Henrik Falhammar, Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.
Andre Lacroix, Division of Endocrinology, Department of Medicine and Research Center, Centre hospitalier de l'Université de Montréal (CHUM), Montréal, QC, Canada.
Mallory Farrar, Neurocrine Biosciences, Inc., Health Economics and Outcomes Research, San Diego, CA, United States.
Conor O'Donoghue, Neurocrine Biosciences, Inc., New Product Commercialization, San Diego, CA, United States.
Milena Anatchkova, Evidera, Patient-Centered Research, Bethesda, MD, United States.
Katelyn Cutts, Evidera, Patient-Centered Research, Bethesda, MD, United States.
Natalie Taylor, Evidera, Patient-Centered Research, Bethesda, MD, United States.
Chuck Yonan, Neurocrine Biosciences, Inc., Health Economics and Outcomes Research, San Diego, CA, United States.
Mark Lamotte, IQVIA, Global Health Economics and Outcomes Research (HEOR), Zaventem, Belgium.
Philippe Touraine, Department of Endocrinology and Reproductive Medicine, Center for Rare Endocrine and Gynecological Disorders, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Université, Paris, France.

Document Type

Journal Article

Publication Date

1-1-2022

Journal

Frontiers in endocrinology

Volume

13

DOI

10.3389/fendo.2022.1005963

Keywords

classic CAH; classic congenital adrenal hyperplasia; glucocorticoid management; treatment complication; unmet needs

Abstract

BACKGROUND: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and excess androgen production. The current standard of care is glucocorticoid (GC) therapy, and sometimes mineralocorticoids, to replace endogenous cortisol deficiency; however, supraphysiologic GC doses are usually needed to reduce excess androgen production. Monitoring/titrating GC treatment remains a major challenge, and there is no agreement on assessment of treatment adequacy. This study surveyed expert opinions on current treatment practices and unmet needs in adults with classic CAH. METHODS: A modified two-round Delphi process with adult endocrinologists was conducted online questionnaire. Survey questions were organized into three categories: practice characteristics/CAH experience, GC management, and unmet needs/complications. Anonymized aggregate data from Round 1 were provided as feedback for Round 2. Responses from both rounds were analyzed using descriptive statistics. Consensus was defined as: full consensus (100%, n=9/9); near consensus (78% to <100%, n=7/9 or 8/9); no consensus (<78%, n<7/9). RESULTS: The same nine panelists participated in both survey rounds; five (56%) were based in North America and four (44%) in Europe. Most panelists (78%) used hydrocortisone in the majority of patients, but two (22%) preferred prednisone/prednisolone. Panelists agreed (89%) that adequate control is best evaluated using a balance of clinical presentation and androgen/precursor laboratory values; no consensus was reached on optimal timing of collecting samples for androgen testing or laboratory values indicating good control. Despite lack of consensus on many aspects of CAH management, panelists agreed on the importance of many disease- and GC-related complications, and that there is a large unmet need for new treatments. With currently available treatments, panelists reported that 46% of classic CAH patients did not have optimized androgen levels, regardless of GC dose. CONCLUSIONS: The limited areas of consensus obtained in this study reflect the variability in treatment practices for adults with classic CAH, even among clinicians with expertise in treating this population. However, all panelists agreed on the need for new treatments for classic CAH and the importance of many disease- and GC-related complications, which are difficult to manage with currently available treatments.

Department

Medicine

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