Development of Healthcare Transition for Patients With Congenital Adrenal Hyperplasia

Study Purpose and Rationale

Congenital adrenal hyperplasia (CAH) is a complex, lifelong endocrine disorder that requires continuous glucocorticoid replacement, stress-dosing during illness, and ongoing monitoring for metabolic, reproductive, and adrenal complications. Adolescents and young adults face substantial challenges maintaining these self-management responsibilities during the transition from pediatric to adult care, a period consistently associated with decreased adherence, reduced clinic attendance, lapses in emergency preparedness, and preventable adrenal crises. Despite these risks, there are currently no structured, evidence-informed transition programs tailored specifically to the needs of individuals with CAH.

The purpose of this study is to evaluate the feasibility, acceptability, and preliminary impact of implementing the Comprehensive Adolescent Healthcare Transition (CAH-T) program for adolescents and young adults with CAH. By combining structured education, readiness assessment, emergency preparedness training, and coordinated transfer to adult endocrinology, this mixed-methods pilot aims to strengthen self-management skills, improve continuity of care, and reduce acute health events. Findings will inform refinement of the CAH-T model and provide essential pilot data needed to support future multi-site implementation.

Objectives and Hypotheses

The overall objective of this mixed-methods feasibility study is to evaluate the implementation and preliminary effectiveness of the Comprehensive Adolescent Healthcare Transition (CAH-T) program for adolescents and young adults with congenital adrenal hyperplasia (CAH). The study aims to determine whether the intervention can be feasibly delivered in a pediatric endocrine clinic, is acceptable to patients and caregivers, and produces early improvements in transition-related outcomes.

The investigators hypothesize that.

• The CAH-T program will be feasible to implement, with recruitment, retention, and curriculum completion meeting predefined benchmarks.
• Participants and caregivers will rate the program as satisfactory.
• Participation in CAH-T will lead to improvements in transition readiness, CAH-specific knowledge, emergency preparedness, and successful linkage to adult endocrinology care, while supporting stable health-related quality of life.

Study Design Overview This is a prospective, single-center, single-arm, mixed-methods feasibility and implementation study conducted over 24 months. Adolescents and young adults aged 16-20 years with a diagnosis of CAH, along with one of their caregivers, will participate in a structured transition curriculum integrated into routine endocrine visits. Quantitative measures of readiness, knowledge, quality of life, and emergency preparedness will be collected at baseline, post-intervention, and at 12-month follow-up. Semi-structured interviews with adolescents, caregivers, and providers will be used to contextualize quantitative findings and identify implementation barriers and facilitators.

Population and Sample Size Summary

The study will enroll approximately 15 adolescents and young adults with CAH (ages 16 years and older) and one caregiver per participant from the Children's Hospital of Alabama pediatric endocrinology clinic. This sample size is appropriate for feasibility pilot work in a rare disease population and will provide sufficient data to estimate feasibility metrics, evaluate acceptability, and generate preliminary effect-size estimates for future multi-site trials.

Primary and Secondary Outcomes

Primary Outcomes

• Feasibility:

• Recruitment ≥75% of eligible participants within the 24 months of the study timeline
• Retention ≥80% at 6- and 12-month follow-up
• Curriculum completion ≥70% for participants enrolled by their 12-month follow-up endpoint.
• Acceptability: ≥80% of participants and caregivers rate the program "satisfied/very satisfied" at their 12-month follow-up

Secondary Outcomes

• Transition Readiness: ≥10% improvement in STARx/STARx-P scores at the 12 month follow-up compared to a baseline score.
• CAH-Specific Knowledge: ≥10% improvement in CAHKAQ scores at the 12 month follow-up compared to a baseline score.
• Emergency Preparedness:

• ≥70% medical alert use
• ≥90% possession of injectable hydrocortisone
• ≥80% updated adrenal insufficiency action plan in the chart
• Health-Related Quality of Life: ≤10% change in CAHQL scores over 12 months
• Transfer Outcomes: ≥80% of eligible participants attend at least one adult endocrinology visit within 6 months post-transfer
• Acute Care Utilization: Stable or reduced emergency/urgent care visits pre- vs. post-intervention

Brief Procedures Summary

Participants will complete a baseline assessment including demographics, CAH knowledge (CAHKAQ),9 transition readiness (STARx/STARx-P),10-12 emergency preparedness, and quality-of-life measures (CAHQL).13 They will then participate in two CAH-T curriculum14 visits embedded in routine endocrine appointments. Age-eligible participants (over 18 years old) will be transferred to adult care following completion of the curriculum and monitored for completion of an adult endocrinology visit. All participants will complete a 12-month follow-up assessment, and emergency care utilization will be recorded for the year preceding enrollment and for the year following intervention completion. Semi-structured interviews will be conducted with adolescents, caregivers, and providers after the program's implementation to explore perceptions of the program's feasibility and acceptability.

Significance / expected impact This study aims to address a significant gap in endocrine transitional care by piloting the first structured, CAH-specific transition program at a U.S. pediatric center. The implementation of CAH-T is expected to improve self-management skills, enhance preparedness for adrenal crises, support a stable quality of life, and increase successful connection to adult endocrinology care. Findings will generate foundational evidence needed to refine the intervention and support future multi-site trials aimed at establishing best practices for transition in rare endocrine disorders.

Inclusion criteria

YA Participants

• Diagnosis of congenital adrenal hyperplasia (any subtype or severity)
• Age ≥16 years
• Active follow-up within the pediatric endocrinology clinic
• English-speaking
• Cognitively able to complete questionnaires with or without assistance
• Anticipated ability to participate in CAH-T visits during the study period Caregiver Participants
• Parent, guardian, or primary support person of an enrolled AYA participant Provider Participants
• Pediatric endocrinologists, nurse practitioners, or transition-related clinical staff involved in CAH care for at least 6 months

Exclusion criteria

• Significant cognitive impairment precluding participation
• Inability to complete study procedures
• Inability to provide informed consent/assent