Rare endocrinology and metabolic disorders affect fewer than 1 in 2,000 people but hold immense clinical significance. These conditions often stem from genetic mutations or hormonal imbalances. Early diagnosis is life-changing, yet many patients wait years for answers.
New York, USA, Jan. 09, 2025 (GLOBE NEWSWIRE) — Rare Endocrinology and Metabolic Disorders Market Analysis: Emerging Trends and Future Outlook of Hypophosphatasia, Congenital Adrenal Hyperplasia, and Severe Hypertriglyceridemia | DelveInsight
Rare endocrinology and metabolic disorders affect fewer than 1 in 2,000 people but hold immense clinical significance. These conditions often stem from genetic mutations or hormonal imbalances. Early diagnosis is life-changing, yet many patients wait years for answers.
Rare endocrinology and metabolic disorders encompass a broad range of conditions that affect hormone regulation and metabolic processes. These disorders are often genetic in nature, leading to imbalances in hormone levels, abnormal metabolic pathways, or impaired organ function.
The burden on patients is profound, as many of these disorders are chronic, requiring lifelong management and often leading to physical, emotional, and social strain. Symptoms can be debilitating, affecting quality of life, and the rarity of these conditions makes diagnosis and treatment complex. Treatment options are often limited and individualized, ranging from hormone replacement therapies to enzyme replacement therapies or specialized diets.
Due to the rarity of these conditions, access to expertise and specialized care is crucial, making early diagnosis, ongoing management, and patient support essential for improving outcomes and alleviating the burden.
DelveInsight has expertise in the rare disease market with an experienced team handling the rare disease domain proficiently. DelveInsight has recently released a series of epidemiology-based market reports on rare endocrinology and metabolic disorders including Hypophosphatasia, Congenital Adrenal Hyperplasia, and Severe Hypertriglyceridemia. These reports include a comprehensive understanding of current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted market size from 2020 to 2034 segmented into 7MM [the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan].
Additionally, the reports feature an examination of prominent companies working with their lead candidates in different stages of clinical development. Let’s deep dive into the assessment of these rare endocrinology and metabolic disorders markets individually.
Hypophosphatasia is a rare inherited metabolic condition characterized by insufficient mineralization of bones and teeth. This deficiency results in soft bones, making them more prone to fractures, deformities, and tooth loss. The disorder can be passed down through either an autosomal recessive or dominant inheritance pattern, depending on the specific variant. According to DelveInsight’s estimates, in 2023, there were 6,200 hypophosphatasia diagnosed prevalent cases in the 7MM. Of these, the United States accounted for 90% of the cases.
Until recently, the treatment for hypophosphatasia was primarily symptomatic and supportive, tailored to the clinical presentation of the condition. However, nearly five years ago, the US FDA approved STRENSIQ (asfotase alfa), developed by AstraZeneca (Alexion AstraZeneca Rare Disease), as the first-line therapy for Hypophosphatasia (2015). This enzyme replacement therapy (ERT) involves the use of bone-targeting recombinant alkaline phosphatase to replace the deficient TNSALP enzyme in patients. It helps reduce the buildup of extracellular TNSALP substrates, leading to improvements in mineralization, motor function, and respiratory function, while also lowering mortality rates.
STRENSIQ is recommended as the primary treatment for individuals with perinatal, infantile, and juvenile-onset Hypophosphatasia. In addition to this, pharmacological treatments such as NSAIDs, glucocorticoids, potassium binders, and vitamin D and B6 supplementation, along with nonpharmacological therapies like mechanical ventilation and surgical interventions, are also advised.
Although STRENSIQ is available for severe cases of hypophosphatasia, there is still a significant gap in treatment options for patients with milder forms or adult-onset hypophosphatasia. These individuals often face subpar outcomes due to the absence of treatments tailored to their needs.
Asfotase alfa, the primary therapy for hypophosphatasia, can cost over USD 1 million annually per patient, creating a significant barrier to access and adherence, especially in regions with limited healthcare coverage or strict reimbursement policies.
Alexion Pharmaceuticals (now part of AstraZeneca) has been a pioneer in the hypophosphatasia space with the introduction of asfotase alfa. Other companies are now entering the market, utilizing orphan drug designations and aiming to increase their market presence through clinical trials and partnerships focused on developing new treatment options. As a result of this, the hypophosphatasia treatment market size is expected to rise from USD 997 million in the 7MM in 2023 at a significant CAGR by 2034.
Hypophosphatasia Pipeline Therapies and Key Companies
- ALXN1850 (efzimfotase alfa): AstraZeneca (Alexion Pharmaceuticals)
- Ilofotase alfa: AM Pharma
- REC-01: PuREC
Discover more about hypophosphatasia drugs in development @ Hypophosphatasia Clinical Trials
Congenital Adrenal Hyperplasia Market
Congenital adrenal hyperplasia refers to a rare set of inherited autosomal recessive conditions that impair the adrenal glands’ ability to produce key hormones. Located above the kidneys, these glands usually produce three types of hormones: corticosteroids, mineralocorticoids, and androgens. The primary cause of CAH is the lack of the enzyme 21-hydroxylase.
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). DelveInsight’s analysis reveals that a higher prevalence of diagnosed congenital adrenal hyperplasia is observed in the 18 years and above age group across the 7MM.
Treatment for congenital adrenal hyperplasia centers on symptom management, as a cure is not available. The main strategy involves lifelong hormone replacement therapy with glucocorticoids and mineralocorticoids, like hydrocortisone, along with other supplements when necessary. Surgery might be needed to correct ambiguous genitalia or urethra-vaginal outlet obstruction. The goal of treatment is to prevent adrenal crises, support normal growth, and manage symptoms throughout life. Early diagnosis and ongoing treatment are crucial for preserving health and preventing complications.
As per DelveInsight analysis, the total congenital adrenal hyperplasia market size in 2023 was more than USD 20 million in the 7MM, which is expected to grow at a CAGR of ~40% during the study period (2020-2034). This growth is mainly 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.
Congenital Adrenal Hyperplasia Pipeline Therapies and Key Companies
- Crinecerfont: Neurocrine Biosciences
- Tildacerfont (SPR001): Spruce Biosciences
- Atumelnant (CRN04894): Crinetics Pharmaceuticals
- BBP-631: BridgeBio
- Lu AG13909: Lundbeck
Dive deeper for rich insights into the Congenital Adrenal Hyperplasia Clinical Trials
Severe Hypertriglyceridemia Market
Hypertriglyceridemia is a condition characterized by high triglyceride levels, with patients experiencing triglyceride concentrations more than three times the normal range. This condition can result in several severe health issues, including cardiovascular disease (CVD) and acute pancreatitis. The total number of diagnosed prevalent cases of SHTG in the 7MM was nearly 3.6 million cases in 2023 and is projected to increase during the forecast period.
The treatment for SHTG involves dietary modifications and the use of lipid-lowering medications, such as medium-chain triglycerides (MCT), fibrates, omega-3 fatty acids (omega-3-FA), and nicotinic acid. Drugs like fenofibrate, Lovaza, and VASCEPA are approved for managing SHTG.
For patients with extremely high triglyceride levels (500 mg/dL or above), medication is typically needed alongside lifestyle changes. Fibrates or niacin are commonly recommended as first-line options for these patients.
Although treatments such as statins, fibrates, and omega-3 fatty acids are available, SHTG continues to have a substantial negative effect on patients’ quality of life, highlighting a notable gap in current therapies. VASCEPA, which is FDA-approved for SHTG and reducing cardiovascular risk, provides only a modest reduction in triglyceride levels and comes with potential risks, including atrial fibrillation and bleeding.
As per DelveInsight analysis, the total market size of SHTG in the 7MM was around USD 1.4 billion in 2023. This is estimated to increase by 2034.
Severe Hypertriglyceridemia Pipeline Therapies and Key Companies
- Olezarsen: Ionis Pharmaceuticals
- Plozasiran (ARO-APOC3): Arrowhead Pharmaceuticals
- Pegozafermin (BIO89-100): 89bio
- SEFA-1024 (NST-1024): NorthSea Therapeutics B.V.
For a deeper understanding of the severe hypertriglyceridemia market landscape, explore the Severe Hypertriglyceridemia Market Outlook
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