Congenital Adrenal Hyperplasia Market Insight, Epidemiology and Market Forecast - 2034

Key Highlights

• The total market size of congenital adrenal hyperplasia in 2023 was more than USD 20 million in the 7MM, which is expected to grow at a CAGR of ~40% during the forecast period (2020-2034).
• Among EU4 and the UK, Germany will capture the maximum revenue share, followed by Italy in 2034.
• In the 7MM, the US accounted for the highest prevalent cases of congenital adrenal hyperplasia in 2023, with around 50% of the total prevalent cases across the 7MM; these numbers are expected to increase during the forecast period (2024-2034).
• The analysis reveals that a higher prevalence of diagnosed congenital adrenal hyperplasia is observed in the 18 years and above age group across the 7MM.
• Among mutation-based congenital adrenal hyperplasia cases, 21 OHD (CYP21A2 gene mutation) represents a higher prevalence compared to 11-Beta hydroxylase (CYP11B1 gene mutation), and others.
• Glucocorticoids (GCs) have been the cornerstone of CONGENITAL ADRENAL HYPERPLASIA management since the 1950s.
• In July 2024, Neurocrine Biosciences announced that the US FDA accepted their two New Drug Applications (NDA) with Priority Review designations for crinecerfont in the treatment of children, adolescents, and adults with classic congenital adrenal hyperplasia.
• In August 2024, Spruce Biosciences announced that topline data from the CAHmelia-204 study of tildacerfont in adult congenital adrenal hyperplasia and the CAHptain-205 study in both adult and pediatric congenital adrenal hyperplasia are expected in the fourth quarter of 2024.

This report delivers an in-depth understanding of the Congenital Adrenal Hyperplasia historical and forecasted epidemiology as well as the Congenital Adrenal Hyperplasia market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The Congenital Adrenal Hyperplasia market report provides current treatment practices, emerging drugs, Congenital Adrenal Hyperplasia market share of individual therapies, and current and forecasted Congenital Adrenal Hyperplasia market size from 2020 to 2034, segmented by seven major markets. The report also covers current Congenital Adrenal Hyperplasia treatment practices/algorithms and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Congenital Adrenal Hyperplasia (CAH): Understanding and Treatment Algorithm

Congenital Adrenal Hyperplasia Overview

Congenital Adrenal Hyperplasia (CAH) is a rare group of inherited autosomal recessive disorders that disrupt the production of essential hormones by the adrenal glands, which are located atop each kidney. These glands typically produce three types of hormones: corticosteroids, mineralocorticoids, and androgens. The most common cause of congenital adrenal hyperplasia is the absence of the enzyme 21-hydroxylase. CAH, due to 21- hydroxylase deficiency, is responsible for approximately 95% of all cases of congenital adrenal hyperplasia and subcategories in classical congenital adrenal hyperplasia and non-classical congenital adrenal hyperplasia. There are other much rarer forms of congenital adrenal hyperplasia as well, including 11-Beta hydroxylase deficiency, 17a-hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, congenital lipoid adrenal hyperplasia, and p450 oxidoreductase deficiency which all present different symptoms. Classical congenital adrenal hyperplasia can result in life-threatening adrenal crises or atypical genital development, while non-classical congenital adrenal hyperplasia may present with milder symptoms later in life. Symptoms vary by congenital adrenal hyperplasia type. Classic congenital adrenal hyperplasia can cause prenatal virilization in females, postnatal virilization in both sexes, and severe salt-wasting crises in SW-congenital adrenal hyperplasia. Non-classic congenital adrenal hyperplasia, typically less severe, may present with early puberty, hirsutism, and fertility issues.

Congenital Adrenal Hyperplasia Diagnosis

Congenital adrenal hyperplasia is diagnosed through newborn screening, clinical evaluation, and confirmatory tests. Elevated 17-hydroxyprogesterone (17-OHP) levels in newborns often indicate congenital adrenal hyperplasia, leading to further tests. Clinical signs, such as ambiguous genitalia or adrenal insufficiency, also raise suspicion. Confirmatory tests include measuring serum cortisol and androgens, with genetic testing for CYP21A2 mutations verifying 21-hydroxylase deficiency. Early diagnosis, through either newborn screening or prenatal molecular analysis, is crucial for timely treatment and managing potential complications.

Congenital Adrenal Hyperplasia Treatment

Treatment for congenital adrenal hyperplasia (CAH) focuses on managing symptoms, as there is no cure. The primary approach involves lifelong hormone replacement therapy with glucocorticoids and mineralocorticoids, such as hydrocortisone, and additional supplements as needed. Surgery may be required to address ambiguous genitalia or urethra-vaginal outlet obstruction. Effective management aims to prevent adrenal crises, ensure normal growth, and address symptoms throughout life. Early detection and consistent treatment are essential for maintaining health and avoiding complications.

Congenital Adrenal Hyperplasia Epidemiology

The Congenital Adrenal Hyperplasia epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the Total Diagnosed Prevalent Cases of Congenital Adrenal Hyperplasia, Gender-specific Cases of Congenital Adrenal Hyperplasia, Age-specific Cases of Congenital Adrenal Hyperplasia, Mutation-based Cases of Congenital Adrenal Hyperplasia, and Type-specific Cases of Congenital Adrenal Hyperplasia in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

• In the 7MM, the US accounted for the highest prevalent cases of congenital adrenal hyperplasia in 2023, with ~32,000 cases; these numbers are expected to increase during the forecast period.
• Congenital Adrenal Hyperplasia predominantly affected males, with approximately 19,000 males diagnosed compared to 13,000 females in 2023 in the US.
• In the 7MM, individuals over the age of 18 were the most affected by Congenital Adrenal Hyperplasia, with approximately 36,000 cases reported in 2020. This number is projected to increase to approximately 50,000 by 2034.

Congenital Adrenal Hyperplasia Drug Chapters

The drug chapter segment of the congenital adrenal hyperplasia report encloses a detailed analysis of the marketed, late-stage (Phase III), and mid-stage (Phase II) pipeline drugs. The marketed drugs segment encloses EFMODY. Furthermore, the current key players for emerging drugs and their respective drug candidates include Neurocrine Biosciences (Crinecerfont), Spruce Biosciences (Tildacerfont), Crinetics Pharmaceuticals (ATUMELNANT), BridgeBio (BBP-631) and others. The drug chapter also helps understand the congenital adrenal hyperplasia clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details, and the latest news and press releases.

Marketed Drugs

EFMODY (Hydrocortisone Modified-release Hard Capsules): Neurocrine Biosciences

EFMODY mimics the natural circadian rhythm of cortisol secretion. It replaces deficient cortisol in patients with congenital adrenal hyperplasia, thereby helping to manage the symptoms associated with the condition. It was approved for the treatment of Congenital Adrenal Hyperplasia in adolescents aged 12 years and over and adults. Hydrocortisone is a glucocorticoid. Glucocorticoids have multiple effects in multiple tissues through actions on the intracellular steroid receptors.

EFMODY contains hydrocortisone, a synthetic form of cortisol, and slowly releases it in the intestines to replace the natural hormone in the body in a pattern similar to the natural daily secretion of cortisol. This helps to restore a more normal hormone balance and minimize other aspects of the condition.

In May 2021, the EMA approved EFMODY as a treatment for adult and adolescent patients (12 years and older) with the rare condition congenital adrenal hyperplasia. In September 2021, Diurnal launched EFMODY for the treatment of adult and adolescent patients (12 years and older) with congenital adrenal hyperplasia in Germany and Austria, followed by the United Kingdom.

In November 2022, Neurocrine Biosciences acquired the Diurnal group for an aggregate value of approximately USD 55 million

Emerging Drugs

Crinecerfont: Neurocrine Biosciences

Crinecerfont is an investigational, oral, selective corticotropin-releasing factor Type 1 receptor (CRF1) antagonist being developed to reduce and control excess Adrenocorticotropic Hormone (ACTH) and adrenal androgens through a glucocorticoid-independent mechanism for the treatment of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency. Crinecerfont works by inhibiting the CRF1 receptor, which plays a critical role in the Hypothalamic-Pituitary-Adrenal (HPA) axis. By blocking CRF1, Crinecerfont reduces the excessive production of adrenocorticotropic hormone (ACTH), a driver of the overproduction of androgens in patients with Congenital Adrenal Hyperplasia. This action aims to balance hormone levels, thereby addressing the underlying cause of the condition.

BBP-631: BridgeBio

BBP-631 is an investigational adeno-associated virus (AAV) gene therapy to treat Congenital Adrenal Hyperplasia due to 21- hydroxylase deficiency at its source. BBP-631 is designed to deliver a functional copy of the 21- hydroxylase gene. It has been shown through multiple animal studies to result in efficient and persistent delivery to the adrenal gland, where hormones are naturally made. If successful, the company hopes to restore the body’s hormone and steroid balance by enabling people with Congenital Adrenal Hyperplasia to make their cortisol and aldosterone, something that is not possible with any treatment on the market or currently in clinical trials for Congenital Adrenal Hyperplasia. BridgeBio believes gene therapy has the potential to restore the delicate balance of hormone production that is dysregulated in this disease.

Drug Class Insight

CRF-1 Inhibitors

CRF-1 inhibitors target the CRF-1 receptor in the HPA axis, reducing ACTH production and thus, adrenal androgen excess in congenital adrenal hyperplasia. By addressing the root cause - ACTH overproduction - these inhibitors offer a way to lessen the reliance on glucocorticoids, which are associated with long-term side effects. CRF-1 inhibitors have the potential to improve hormonal balance and reduce the adverse effects of chronic steroid use.

ACTH Inhibitors

ACTH inhibitors directly suppress ACTH, preventing the excessive production of adrenal androgens and corticosteroids in Congenital Adrenal Hyperplasia. This targeted approach may provide better disease control with fewer side effects compared to traditional therapies. However, ensuring ACTH suppression without disrupting normal adrenal function remains a challenge.

Congenital Adrenal Hyperplasia Market Outlook

The market for Congenital Adrenal Hyperplasia (CAH) is driven by significant unmet needs, particularly in the development of novel treatments and the establishment of comprehensive guidelines for adolescents and adults with 21-hydroxylase deficiency. Current treatments, like glucocorticoid therapy, manage symptoms but come with serious side effects due to high steroid dosages. Despite the lack of FDA-approved drugs, promising therapies are in the pipeline, including gene therapies like BBP-631, and novel agents like Crinecerfont, Tildacerfont, and Atumelnant, which are advancing through clinical trials. These emerging therapies are expected to enter the market by 2025, offering potentially disease-modifying options that could significantly improve patient outcomes and drive market growth.

Key Findings

• In 2023, the United States held the largest market share for Congenital Adrenal Hyperplasia among the 7MM, accounting for approximately 60% of the total market.
• In 2023, steroids dominated the Congenital Adrenal Hyperplasia therapy market in the United States. However, by 2034, BBP-631 is expected to take the lead, commanding the largest market share.
• In 2023, steroid treatments for congenital adrenal hyperplasia generated approximately USD 7 million in revenue across the EU4 countries and the UK.
• In July 2024, Neurocrine Biosciences received Priority Review designations from the US FDA for two New Drug Applications for crinecerfont, targeting classic congenital adrenal hyperplasia in children, adolescents, and adults, with a projected launch in early 2025.

Congenital Adrenal Hyperplasia Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2024-2034, which depends on the competitive landscape, safety, and efficacy data along with order of entry. It is important to understand that the key players evaluating their novel therapies in the pivotal and confirmatory trials should remain vigilant when selecting appropriate comparators to stand the greatest chance of a positive opinion from regulatory bodies, leading to approval, smooth launch, and rapid uptake.

Congenital Adrenal Hyperplasia Pipeline Development Activities

The report provides insights into therapeutic candidates in Phase III, Phase II, and Phase I/II. It also analyzes key players involved in developing targeted therapeutics. Companies like Neurocrine Biosciences, Spruce Biosciences, Crinetics Pharmaceuticals, BridgeBio, Lundbeck, and others are actively engaging their product in research and development efforts for Congenital Adrenal Hyperplasia. The pipeline of Congenital Adrenal Hyperplasia possesses many potential drugs and there is a positive outlook for the therapeutics market, with expectations of growth during the forecast period (2024-2034).

Pipeline Development Activities

The report covers information on collaborations, acquisitions and mergers, licensing, and patent details for Congenital Adrenal Hyperplasia emerging therapy.

KOL- Views

To keep up with current market trends, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on the Congenital Adrenal Hyperplasia evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake, along with challenges related to accessibility, including Endocrinologist, Pediatricians, and others.

The analysts connected with 30+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. Centers such as the National Institutes of Health, Cincinnati Children’s Hospital Medical Center, Boston Children's Hospital, Great Ormond Street Hospital, etc., were contacted. Their opinion helps understand and validate current and emerging therapy treatment patterns or Congenital Adrenal Hyperplasia market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst’s discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape. 

Market Access and Reimbursement

The report provides detailed insights on the

country-wise accessibility and reimbursement scenarios, cost-effectiveness

scenario of currently used therapies, programs making accessibility easier and

out-of-pocket costs more affordable, insights on patients insured under federal

or state government prescription drug programs, etc.

Scope of the Report

• The report covers a segment of key events, an executive summary, and a descriptive overview of congenital adrenal hyperplasia, explaining its causes, signs, symptoms, pathogenesis, and currently used therapies.
• Comprehensive insight into the epidemiology segments and forecasts, disease progression, and treatment guidelines has been provided.
• Additionally, an all-inclusive account of the emerging therapies and the elaborative profiles of late-stage and prominent therapies will impact the current treatment landscape.
• A detailed review of the congenital adrenal hyperplasia market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies by understanding trends through SWOT analysis and KOL views, patient journey, and treatment preferences that help shape and drive congenital adrenal hyperplasia market.

Myelodysplastic Syndrome Report Insights

• Patient Population
• Therapeutic Approaches
• Congenital Adrenal Hyperplasia Pipeline Analysis
• Congenital Adrenal Hyperplasia Market Size and Trends
• Existing and Future Market Opportunity

Myelodysplastic Syndrome Report Key Strengths

• Eleven Years Forecast
• The 7MM Coverage
• Congenital Adrenal Hyperplasia Epidemiology Segmentation
• Key Cross Competition
• Drugs Uptake and Key Market Forecast Assumptions

Myelodysplastic Syndrome Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs

• What was the congenital adrenal hyperplasia market size, the market size by therapies, market share (%) distribution in 2020, and what would it look like by 2034? What are the contributing factors for this growth?
• What can be the future treatment paradigm for congenital adrenal hyperplasia?
• What are the disease risks, burdens, and unmet needs of congenital adrenal hyperplasia? What will be the growth opportunities across the 7MM concerning the patient population with congenital adrenal hyperplasia?
• What are the current options for the treatment of congenital adrenal hyperplasia? What are the current guidelines for treating congenital adrenal hyperplasia in the 7MM?
• What are the recent novel therapies, targets, mechanisms of action, and technologies being developed to overcome the limitations of existing therapies?
• What is the patient share in congenital adrenal hyperplasia?

Reasons to Buy

• The report will help develop business strategies by understanding the latest trends and changing treatment dynamics driving the congenital adrenal hyperplasia market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• Understand the existing market opportunities in varying geographies and the growth potential over the coming years.
• Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
• Highlights of access and reimbursement policies of current therapies, and patient assistance programs.
• To understand Key Opinion Leaders’ perspectives around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.