CAH - Congenital Adrenal HyperplasiaHARMONYNCT07622030
Hydrocortisone Modified-release in Adults: Real-world Monitoring of Longitudinal Outcomes in coNgenital Adrenal hYperplasia
An observational study of CAH - Congenital Adrenal Hyperplasia, run by IRCCS San Raffaele.
Trial summary
Classic congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder caused by a defect in the enzyme cascade regulating adrenal steroidogenesis; in approximately 95% of cases the defect is located in CYP21A2, the gene encoding 21-hydroxylase, and is characterized by defective adrenal… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- CAH - Congenital Adrenal Hyperplasia
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- 31 Jul 2026to 31 Jul 2031
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Approximately 32 patients are currently available for retrospective and prospective analysis. Additional eligible patients may be enrolled prospectively during the observational phase. All patients who come for an appointment at the endocrinology clinics of IRCCS San Raffaele for routine clinical evaluations
Who may be able to join
- Age ≥18 years;
- Genetically confirmed diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia;
- Transition from conventional glucocorticoid therapy to modified-release hydrocortisone according to routine clinical practice;
- Stable glucocorticoid and mineralocorticoid therapy before transition;
- Ability to understand study procedures and provide informed consent for prospective data collection whenever applicable
Who cannot join
- Age <18 years;
- Pregnancy or breastfeeding;
- Severe uncontrolled medical or psychiatric illness;
- Use of glucocorticoids for indications other than CAH;
- Use of drugs interfering with glucocorticoid metabolism;
- History of bilateral adrenalectomy
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Long-term Real-world Outcomes of Chronotherapy With Modified-release Hydrocortisone in Congenital Adrenal Hyperplasia
Classic congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder caused by a defect in the enzyme cascade regulating adrenal steroidogenesis; in approximately 95% of cases the defect is located in CYP21A2, the gene encoding 21-hydroxylase, and is characterized by defective adrenal steroidogenesis and cortisol deficiency. Due to the loss of physiological cortisol feedback on the hypothalamus and pituitary corticotropic cells, ACTH secretion is increased. This results in the accumulation of 17-hydroxyprogesterone (17OHP) proximal to the enzymatic defect in steroidogenesis, which in turn stimulates overproduction of the adrenal androgen precursor androstenedione and adrenal hyperplasia.
Treatment of CAH is tailored to the patient and disease severity, aiming to replace cortisol and aldosterone deficiencies while controlling androgen excess and avoiding glucocorticoid overtreatment. Immediate-release hydrocortisone administered multiple times daily remains the recommended first-line treatment in growing children, whereas adult patients are frequently treated with hydrocortisone, prednisone, prednisolone or dexamethasone.
Read more
However, conventional glucocorticoid regimens cannot adequately reproduce the physiological circadian rhythm of cortisol secretion. In physiological conditions, ACTH-driven cortisol secretion follows a clear circadian rhythm characterized by low evening levels, nocturnal increase between 2:00 and 4:00 a.m., a morning peak upon awakening, and progressive decline during daytime.
Dual daytime dosing of immediate-release hydrocortisone in CAH can control ACTH-driven adrenal androgen secretion during the day; however, because of its rapid absorption into the bloodstream and short half-life, the evening dose of hydrocortisone cannot adequately suppress the nocturnal ACTH surge and ACTH-driven adrenal androgen overproduction.
Consequently, patients are often exposed to supraphysiological glucocorticoid doses during nighttime hours in an attempt to control morning hyperandrogenism. The disruption of physiological cortisol homeostasis contributes to poor cardiometabolic profile, obesity, insulin resistance, impaired fertility, reduced quality of life, and increased cardiovascular morbidity and mortality observed in patients with CAH.
Bone health may also be impaired in patients with CAH because of chronic glucocorticoid exposure and androgen imbalance. Previous studies demonstrated reduced lumbar and femoral bone mineral density and increased fracture risk in both male and female patients.
Modified-release hydrocortisone (MR-HC; Efmody®) is a multiparticulate formulation developed to better reproduce physiological cortisol circadian rhythm through chronotherapy. Previous phase II and phase III studies demonstrated improved biochemical control, reduction in androgen excess, lower glucocorticoid exposure, improved fertility outcomes, and sustained long-term efficacy compared with conventional glucocorticoid regimens.
However, real-world longitudinal data regarding long-term biochemical, metabolic, cardiovascular, reproductive and skeletal outcomes remain limited, particularly in adult patients transitioning from pediatric to adult endocrine care.
The present study is a single-center, retrospective and prospective, longitudinal, open-label observational cohort study aimed at evaluating the long-term real-world outcomes of chronotherapy with modified-release hydrocortisone in adult patients with genetically confirmed 21-hydroxylase deficiency CAH.
Retrospective clinical, biochemical and radiological data already available from routine clinical care will be collected from medical records, while prospective observational follow-up will continue according to routine endocrine clinical practice.
Read the detailed description
The study is designed as an ongoing longitudinal observational cohort intended to evaluate short-term and long-term outcomes of MR-HC treatment in a real-world setting.
At the time of protocol drafting, retrospective and prospective data are available for approximately 32 patients, with follow-up extending up to 24-36 months in some cases. Additional eligible patients may be included prospectively during the observational phase of the study.
Follow-up assessments are planned at approximately 2, 4, 6, and 12 months after treatment transition and yearly thereafter whenever available as part of routine clinical practice.
Interim analyses may be performed on available datasets before completion of long-term follow-up in order to evaluate clinically relevant outcomes emerging from real-world experience.
All procedures and laboratory assessments included in the study are part of routine clinical management of patients with CAH and do not imply additional costs for patients or for the institution.
- Conditions
- CAH - Congenital Adrenal Hyperplasia
- Keywords
- chronotherapy, hydrocortisone, 21-hydroxylase deficiency CAH, outcomes
- Medical subject headings
- Adrenal Hyperplasia, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| longitudinal observational cohort intended to evaluate short-term and long-term outcomes of MR-HC | retrospective and prospective data are available for approximately 32 patients, with follow-up extending up to 24-36 months in some cases. Additional eligible patients may be included prospectively during the observational phase of the study. Follow-up assessments are planned at approximately 2, 4, 6, and 12 months after treatment transition and yearly thereafter whenever available as part of routine clinical practice. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change From Baseline in Morning Serum 17- Hydroxyprogesterone and Androstenedione Concentrations
Morning serum 17-OH progesterone (17OHP) and D4-androstenedione levels under conventional therapy and during MR-HC treatment
Measured: Baseline, 6 months, 12 months, and annually thereafter
Secondary outcomes (10)
Change From Baseline in Morning Serum 17-Hydroxyprogesterone (17OHP) and Androstenedione Concentrations During Modified-Release Hydrocortisone Treatment
Morning serum 17OHP and androstenedione concentrations measured during conventional glucocorticoid therapy and after transition to MR-HC.
Measured: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Morning Plasma ACTH and Cortisol Concentrations and Midnight Salivary Cortisol Levels
Morning plasma ACTH and cortisol concentrations and midnight salivary cortisol levels.
Measured: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Plasma Renin Activity and Serum Sodium and Potassium Concentrations
Plasma renin activity and serum sodium and potassium concentrations as indicators of mineralocorticoid control.
Measured: Baseline and each follow-up visit
Number of Adrenal Crises and Episodes Requiring Glucocorticoid Stress Dosing
Occurrence of adrenal crises and episodes requiring stress-dose glucocorticoid administration.
Measured: Throughout follow-up
Change From Baseline in Body Mass Index, Waist Circumference, Blood Pressure, and Clinical Hyperandrogenism Parameters
Anthropometric and clinical measures including BMI, waist circumference, blood pressure, and signs of hyperandrogenism.
Measured: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Glycemia, Hemoglobin A1c, Insulin Concentrations, HOMA-IR, and Lipid Profile Parameters
Metabolic parameters including fasting glucose, HbA1c, insulin levels, HOMA-IR, total cholesterol, HDL cholesterol, LDL cholesterol, and triglycerides.
Measured: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Markers of Calcium-Phosphorus Metabolism and Bone Turnover
Serum calcium, phosphorus, parathyroid hormone (PTH), vitamin D, C-terminal telopeptide (CTX), osteocalcin, alkaline phosphatase (ALP), and urinary calcium/phosphorus excretion.
Measured: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Lumbar Spine and Femoral Bone Mineral Density Measured by Dual-Energy X-Ray Absorptiometry (DXA)
Lumbar spine and femoral neck bone mineral density assessed by DXA.
Measured: Baseline and according to routine clinical practice
Change From Baseline in Total Daily Glucocorticoid Dose
Total daily glucocorticoid dose expressed as hydrocortisone-equivalent dose.
Measured: Each follow-up visit
Change From Baseline in SF-36 and AddiQoL Questionnaire Scores
Health-related quality of life assessed using SF-36 and AddiQoL questionnaires.
Measured: Baseline and follow-up in prospectively enrolled patients
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2026
- Study start31 Jul 2026 (estimated)
- Primary completion31 Aug 2026 (estimated)
- Study completion31 Jul 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for CAH - Congenital Adrenal HyperplasiaStudies of the same condition, open and under way.
- More trials run by IRCCS San RaffaeleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- IRCCS San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Prof. Paola Loli, IRCCS San Raffaele
- Investigators
- Andrea Giustina, MD, Study director, IRCCS San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07622030
- Sponsor's protocol ID
- HARMONY-CET1-2026
- Acronym
- HARMONY
- Status last verified
- Jun 2026
- First submitted
- 27 May 2026
- Last updated
- 8 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: results publication
Publications
Mallappa A, Sinaii N, Kumar P, Whitaker MJ, Daley LA, Digweed D, Eckland DJ, Van Ryzin C, Nieman LK, Arlt W, Ross RJ, Merke DP. A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2015 Mar;100(3):1137-45. doi: 10.1210/jc.2014-3809. Epub 2014 Dec 11.
PubMed 25494662Han TS, Walker BR, Arlt W, Ross RJ. Treatment and health outcomes in adults with congenital adrenal hyperplasia. Nat Rev Endocrinol. 2014 Feb;10(2):115-24. doi: 10.1038/nrendo.2013.239. Epub 2013 Dec 17.
PubMed 24342885Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ; United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab. 2010 Nov;95(11):5110-21. doi: 10.1210/jc.2010-0917. Epub 2010 Aug 18.
PubMed 20719839Falhammar H, Frisen L, Norrby C, Hirschberg AL, Almqvist C, Nordenskjold A, Nordenstrom A. Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2014 Dec;99(12):E2715-21. doi: 10.1210/jc.2014-2957.
PubMed 25279502Jenkins-Jones S, Parviainen L, Porter J, Withe M, Whitaker MJ, Holden SE, Morgan CL, Currie CJ, Ross RJM. Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia. Eur J Endocrinol. 2018 Apr;178(4):309-320. doi: 10.1530/EJE-17-0895. Epub 2018 Jan 25.
PubMed 29371334Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Dec;97(12):4429-38. doi: 10.1210/jc.2012-2102. Epub 2012 Sep 18.
PubMed 22990093Auchus RJ, Arlt W. Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013 Jul;98(7):2645-55. doi: 10.1210/jc.2013-1440.
PubMed 23837188Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005 Jun 18-24;365(9477):2125-36. doi: 10.1016/S0140-6736(05)66736-0.
PubMed 15964450
Study at a glance
From the registry record, last updated by the sponsor on 8 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-term Real-world Outcomes of Chronotherapy With Modified-release Hydrocortisone in Congenital Adrenal Hyperplasia
- ClinicalTrials.gov ID
- NCT07622030
- Acronym / sponsor ID
- HARMONY / HARMONY-CET1-2026
- Conditions
- CAH - Congenital Adrenal Hyperplasia
- Keywords
- chronotherapy, hydrocortisone, 21-hydroxylase deficiency CAH, outcomes
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- IRCCS San RaffaeleUniversity, hospital or other
- Study start
- 31 Jul 2026 (estimated)
- Primary completion
- 31 Aug 2026 (estimated)
- Study completion
- 31 Jul 2031 (estimated)
- First posted
- 2 Jun 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Classic congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder caused by a defect in the enzyme cascade regulating adrenal steroidogenesis; in approximately 95% of cases the defect is located in CYP21A2, the gene encoding 21-hydroxylase, and is characterized by defective adrenal steroidogenesis and cortisol deficiency. Due to the loss of physiological cortisol feedback on the hypothalamus and pituitary corticotropic cells, ACTH secretion is increased. This results in the accumulation of 17-hydroxyprogesterone (17OHP) proximal to the enzymatic defect in steroidogenesis, which in turn stimulates overproduction of the adrenal androgen precursor androstenedione and adrenal hyperplasia.
Treatment of CAH is tailored to the patient and disease severity, aiming to replace cortisol and aldosterone deficiencies while controlling androgen excess and avoiding glucocorticoid overtreatment. Immediate-release hydrocortisone administered multiple times daily remains the recommended first-line treatment in growing children, whereas adult patients are frequently treated with hydrocortisone, prednisone, prednisolone or dexamethasone.
However, conventional glucocorticoid regimens cannot adequately reproduce the physiological circadian rhythm of cortisol secretion. In physiological conditions, ACTH-driven cortisol secretion follows a clear circadian rhythm characterized by low evening levels, nocturnal increase between 2:00 and 4:00 a.m., a morning peak upon awakening, and progressive decline during daytime.
Dual daytime dosing of immediate-release hydrocortisone in CAH can control ACTH-driven adrenal androgen secretion during the day; however, because of its rapid absorption into the bloodstream and short half-life, the evening dose of hydrocortisone cannot adequately suppress the nocturnal ACTH surge and ACTH-driven adrenal androgen overproduction.
Consequently, patients are often exposed to supraphysiological glucocorticoid doses during nighttime hours in an attempt to control morning hyperandrogenism. The disruption of physiological cortisol homeostasis contributes to poor cardiometabolic profile, obesity, insulin resistance, impaired fertility, reduced quality of life, and increased cardiovascular morbidity and mortality observed in patients with CAH.
Bone health may also be impaired in patients with CAH because of chronic glucocorticoid exposure and androgen imbalance. Previous studies demonstrated reduced lumbar and femoral bone mineral density and increased fracture risk in both male and female patients.
Modified-release hydrocortisone (MR-HC; Efmody®) is a multiparticulate formulation developed to better reproduce physiological cortisol circadian rhythm through chronotherapy. Previous phase II and phase III studies demonstrated improved biochemical control, reduction in androgen excess, lower glucocorticoid exposure, improved fertility outcomes, and sustained long-term efficacy compared with conventional glucocorticoid regimens.
However, real-world longitudinal data regarding long-term biochemical, metabolic, cardiovascular, reproductive and skeletal outcomes remain limited, particularly in adult patients transitioning from pediatric to adult endocrine care.
The present study is a single-center, retrospective and prospective, longitudinal, open-label observational cohort study aimed at evaluating the long-term real-world outcomes of chronotherapy with modified-release hydrocortisone in adult patients with genetically confirmed 21-hydroxylase deficiency CAH.
Retrospective clinical, biochemical and radiological data already available from routine clinical care will be collected from medical records, while prospective observational follow-up will continue according to routine endocrine clinical practice.
Detailed description
The study is designed as an ongoing longitudinal observational cohort intended to evaluate short-term and long-term outcomes of MR-HC treatment in a real-world setting.
At the time of protocol drafting, retrospective and prospective data are available for approximately 32 patients, with follow-up extending up to 24-36 months in some cases. Additional eligible patients may be included prospectively during the observational phase of the study.
Follow-up assessments are planned at approximately 2, 4, 6, and 12 months after treatment transition and yearly thereafter whenever available as part of routine clinical practice.
Interim analyses may be performed on available datasets before completion of long-term follow-up in order to evaluate clinically relevant outcomes emerging from real-world experience.
All procedures and laboratory assessments included in the study are part of routine clinical management of patients with CAH and do not imply additional costs for patients or for the institution.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| longitudinal observational cohort intended to evaluate short-term and long-term outcomes of MR-HC | – | –retrospective and prospective data are available for approximately 32 patients, with follow-up extending up to 24-36 months in some cases. Additional eligible patients may be included prospectively during the observational phase of the study. Follow-up assessments are planned at approximately 2, 4, 6, and 12 months after treatment transition and yearly thereafter whenever available as part of routine clinical practice. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Approximately 32 patients are currently available for retrospective and prospective analysis. Additional eligible patients may be enrolled prospectively during the observational phase. All patients who come for an appointment at the endocrinology clinics of IRCCS San Raffaele for routine clinical evaluations
Key inclusion criteria (5 listed)
- Age ≥18 years;
- Genetically confirmed diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia;
- Transition from conventional glucocorticoid therapy to modified-release hydrocortisone according to routine clinical practice;
- Stable glucocorticoid and mineralocorticoid therapy before transition;
- Ability to understand study procedures and provide informed consent for prospective data collection whenever applicable
Key exclusion criteria (6 listed)
- Age <18 years;
- Pregnancy or breastfeeding;
- Severe uncontrolled medical or psychiatric illness;
- Use of glucocorticoids for indications other than CAH;
- Use of drugs interfering with glucocorticoid metabolism;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change From Baseline in Morning Serum 17- Hydroxyprogesterone and Androstenedione Concentrations
Time frame: Baseline, 6 months, 12 months, and annually thereafter
Morning serum 17-OH progesterone (17OHP) and D4-androstenedione levels under conventional therapy and during MR-HC treatment
10 secondary outcomes
Change From Baseline in Morning Serum 17-Hydroxyprogesterone (17OHP) and Androstenedione Concentrations During Modified-Release Hydrocortisone Treatment
Time frame: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Morning Plasma ACTH and Cortisol Concentrations and Midnight Salivary Cortisol Levels
Time frame: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Plasma Renin Activity and Serum Sodium and Potassium Concentrations
Time frame: Baseline and each follow-up visit
Number of Adrenal Crises and Episodes Requiring Glucocorticoid Stress Dosing
Time frame: Throughout follow-up
Change From Baseline in Body Mass Index, Waist Circumference, Blood Pressure, and Clinical Hyperandrogenism Parameters
Time frame: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Glycemia, Hemoglobin A1c, Insulin Concentrations, HOMA-IR, and Lipid Profile Parameters
Time frame: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Markers of Calcium-Phosphorus Metabolism and Bone Turnover
Time frame: Baseline, 6 months, 12 months, and annually thereafter
Change From Baseline in Lumbar Spine and Femoral Bone Mineral Density Measured by Dual-Energy X-Ray Absorptiometry (DXA)
Time frame: Baseline and according to routine clinical practice
Change From Baseline in Total Daily Glucocorticoid Dose
Time frame: Each follow-up visit
Change From Baseline in SF-36 and AddiQoL Questionnaire Scores
Time frame: Baseline and follow-up in prospectively enrolled patients
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jun 2026.
- Background: PubMed 25494662Mallappa A, Sinaii N, Kumar P, Whitaker MJ, Daley LA, Digweed D, Eckland DJ, Van Ryzin C, Nieman LK, Arlt W, Ross RJ, Merke DP. A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2015 Mar;100(3):1137-45. doi: 10.1210/jc.2014-3809. Epub 2014 Dec 11.
- Background: PubMed 24342885Han TS, Walker BR, Arlt W, Ross RJ. Treatment and health outcomes in adults with congenital adrenal hyperplasia. Nat Rev Endocrinol. 2014 Feb;10(2):115-24. doi: 10.1038/nrendo.2013.239. Epub 2013 Dec 17.
- Background: PubMed 20719839Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ; United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab. 2010 Nov;95(11):5110-21. doi: 10.1210/jc.2010-0917. Epub 2010 Aug 18.
- Background: PubMed 25279502Falhammar H, Frisen L, Norrby C, Hirschberg AL, Almqvist C, Nordenskjold A, Nordenstrom A. Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2014 Dec;99(12):E2715-21. doi: 10.1210/jc.2014-2957.
- Background: PubMed 29371334Jenkins-Jones S, Parviainen L, Porter J, Withe M, Whitaker MJ, Holden SE, Morgan CL, Currie CJ, Ross RJM. Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia. Eur J Endocrinol. 2018 Apr;178(4):309-320. doi: 10.1530/EJE-17-0895. Epub 2018 Jan 25.
- Background: PubMed 22990093Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Dec;97(12):4429-38. doi: 10.1210/jc.2012-2102. Epub 2012 Sep 18.
- Background: PubMed 23837188Auchus RJ, Arlt W. Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013 Jul;98(7):2645-55. doi: 10.1210/jc.2013-1440.
- Background: PubMed 15964450Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005 Jun 18-24;365(9477):2125-36. doi: 10.1016/S0140-6736(05)66736-0.
- Individual participant dataSharing planned: Yes. results publication
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Andrea Giustina, MD study director
IRCCS San Raffaele
Questions about this trial
What is this clinical trial studying?
An observational study of CAH - Congenital Adrenal Hyperplasia, run by IRCCS San Raffaele.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 8 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Paola Loli, MD (+39 02 2643 ext. 8959, loli.paola@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change From Baseline in Morning Serum 17- Hydroxyprogesterone and Androstenedione Concentrations (time frame: Baseline, 6 months, 12 months, and annually thereafter). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07622030, which also lists 8 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jun 2026.