연골무형성증 시장 규모는 예측 기간 중 연평균 성장률(CAGR)이 증가할 것으로 예상됩니다. 시장 매출의 성장은 주로 유전자 치료의 발전, 인지도 및 진단율 향상, R&D 투자 증가, 치료 옵션 개선 및 환자 결과 개선에 따른 것으로, 2023년 미국에서 연골무형성증 진단을 받은 환자 수는 약 14,500명에 달할 것으로 추산됩니다.
연골무형성증은 섬유아세포 성장인자 수용체 3(FGFR3) 유전자의 돌연변이로 인해 현저한 저신장(왜소증)을 초래하는 희귀한 유전성 뼈성장 장애입니다. 이 돌연변이는 FGFR3 유전자의 기능 획득으로 이어져 성장판 연골의 뼈 형성을 지연시켜 전신의 거의 모든 뼈의 성장에 장애를 일으킵니다.
상염색체 우성 유전으로 유전자는 완전히 침투되어 있습니다. 그러나 80% 이상의 경우 산발적 또는 de novo 돌연변이에 의해 발병합니다. 따라서 연골무형성증 자녀는 가족력이 없는 건강한 부모에게서 태어날 수도 있습니다.
연골무형성증은 낮은 키, 튀어나온 이마(전두부 융기)와 편평한 콧대(함몰)를 가진 큰 머리(대두증), 짧은 팔과 다리, 튀어나온 복부와 엉덩이(척추의 내측 만곡으로 인한), 손가락이 '삼지창' 또는 세 갈래로 갈라지는 짧은 손 등이 특징적인 증상으로 나타납니다. 또한 대부분의 연골무형성증 여성은 자연적으로 약 4피트 2인치(128cm), 남성은 약 4피트 4인치(134cm)로 성장합니다.
2021년 11월, 미국 FDA는 연골무형성증에 대한 첫 번째 치료제로 VOXZOGO(vosoritide)라는 약물이 미충족 의료 수요를 충족시켜 가속 승인 경로를 통해 승인되었습니다.
치료법의 발전에도 불구하고 연골무형성증 치료에는 몇 가지 미충족 수요가 남아 있습니다. 여기에는 효과적인 표적 치료법 개발, 전문 치료 접근성 개선, 조기 진단 강화, 환자와 가족이 직면한 신체적, 정신적, 사회적 문제에 대처할 수 있는 종합적인 지원 체계 등이 포함됩니다.
주요 7개국 연골무형성증 시장에 대해 조사했으며, 시장 개요, 역학, 환자 동향, 새로운 치료법, 2034년까지 시장 규모 예측, 미충족 의료 수요 등을 조사하여 전해드립니다.
Achondroplasia Treatment Market
Achondroplasia is a rare genetic bone growth disorder that results in marked short stature (dwarfism) due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The mutation leads to a gain-of-function of the FGFR3 gene, which slows down the formation of bone in the cartilage of the growth plate and impairs growth in almost all bones in the body.
It is inherited in an autosomal dominant pattern, and the gene is fully penetrant. However, the condition occurs in over 80% of cases due to sporadic or de novo mutation. Thus, a child with achondroplasia can be born to healthy parents without a family history.
The disorder is characterized by distinctive features including short stature, a considerable head (macrocephaly) with a prominent forehead (frontal bossing) and flat (depressed) nasal bridge, short arms, and legs; prominent abdomen and buttocks (due to an inward curve of the spine), and short hands with fingers that assume a "trident" or three-pronged position during extension. Further, most females with achondroplasia naturally grow to approximately 4 feet 2 inches (128 cm), while males to about 4 feet 4 inches (134 cm).
Achondroplasia Diagnosis and Treatment Algorithm
Achondroplasia is typically diagnosed through clinical evaluation, genetic testing, and radiographic imaging. Clinicians assess physical characteristics such as disproportionate short stature, shortened limbs, and distinctive facial features. Prenatal ultrasound can often detect signs of Achondroplasia by the second trimester, identifying abnormalities in limb length and head size. Genetic testing confirms the diagnosis by identifying mutations in the FGFR3 gene, responsible for this condition. Postnatal diagnosis involves detailed physical examination and X-rays to observe characteristic skeletal abnormalities, such as shortening of the long bones, spinal stenosis, and specific features of the pelvis and skull.
While there is no cure for Achondroplasia, treatment focuses on managing symptoms and complications. Multidisciplinary care is essential, involving pediatricians, geneticists, orthopedists, neurologists, and physical therapists. Growth hormone therapy has shown some effectiveness in increasing height, though it is not a standard treatment. Surgical interventions may be necessary for severe skeletal abnormalities, such as limb lengthening procedures or surgeries to address spinal stenosis and other complications. Supportive therapies, including physical therapy and occupational therapy, help improve mobility and daily functioning. Additionally, new treatments targeting the underlying genetic mutation, such as C-type natriuretic peptide analogs, are under investigation and show promise in potentially altering disease progression. Regular monitoring and early intervention are crucial to optimize outcomes and improve the quality of life for individuals with Achondroplasia.
The epidemiology section on the Achondroplasia epidemiology segment offers information on the patient populations, including historical and projected trends for each of the seven major markets. Examining key opinion leader views from physicians or clinical experts can assist in identifying the reasons behind historical and projected trends. The diagnosed patient pool, their trends, and the underlying assumptions are all included in this section of the report.
This section also presents the data with relevant tables and graphs, offering a clear and concise view of the incidence of Achondroplasia. Additionally, the report discloses the assumptions made during the analysis, ensuring data interpretation and presentation transparency. This epidemiological data is valuable for understanding the disease burden and its impact on the patient population across various regions.
Key Findings
Achondroplasia, a common form of dwarfism caused by a genetic mutation, has historically been managed through supportive care and surgical interventions. However, recent advancements in medical science have introduced promising pharmacological treatments. Traditional management includes orthopedic surgeries to correct bone deformities, alleviate spinal stenosis, and enhance mobility. These procedures, though effective in addressing specific complications, do not alter the underlying growth deficiency.
The introduction of pharmacological treatments marks a significant shift in the management of achondroplasia. Vosoritide, a daily injectable drug, has emerged as a breakthrough therapy. Vosoritide is an analog of C-type natriuretic peptide (CNP) that targets the overactive fibroblast growth factor receptor 3 (FGFR3) pathway, which is responsible for inhibiting bone growth in individuals with achondroplasia. Clinical trials have demonstrated that vosoritide significantly improves annual growth velocity in children with achondroplasia, offering a potential means to enhance final adult height and reduce complications associated with disproportionate growth.
Another promising treatment under investigation is transition CNP, a prodrug designed to provide sustained CNP release, which aims to reduce the frequency of dosing while maintaining efficacy. Early studies indicate that transCon CNP has the potential to improve growth outcomes and quality of life for patients with achondroplasia.
Beyond these pharmacological approaches, gene therapy is an area of active research. Scientists are exploring methods to correct the underlying FGFR3 mutation at the genetic level, potentially offering a one-time cure for achondroplasia. Although still in the experimental stages, gene therapy holds immense promise for transforming the future landscape of achondroplasia treatment market.
Overall, the evolution of treatment options for achondroplasia from purely supportive measures to innovative pharmacological and genetic therapies offers new hope for improving the lives of individuals with this condition. These advancements not only target the symptoms but also address the root cause of achondroplasia, paving the way for more effective and comprehensive management.
With ongoing research and continued dedication, the future holds hope for even more effective treatments and, ultimately, a cure for this challenging condition. According to DelveInsight, the Achondroplasia therapeutics market in the 7MM is projected to grow significantly during the study period 2020-2034.
Marketed Achondroplasia Drugs
VOXZOGO (vosoritide): BioMarin Pharmaceuticals
VOXZOGO (vosoritide) by BioMarin Pharmaceuticals is a groundbreaking treatment for achondroplasia. It works by mimicking C-type natriuretic peptide (CNP), which counteracts the overactive FGFR3 pathway that impairs bone growth. Administered via daily subcutaneous injections, Voxzogo enhances growth velocity in children with achondroplasia. It received FDA approval in November 2021 and EMA approval in August 2021, making it the first pharmacological treatment approved explicitly for this genetic condition.
Emerging Achondroplasia Drugs
RBM-007: RIBOMIC Inc.
RBM-007, developed by RIBOMIC Inc., is an RNA aptamer targeting fibroblast growth factor 2 (FGF2) for the treatment of achondroplasia. Its mechanism of action involves inhibiting FGF2, thereby promoting bone growth and reducing the effects of the FGFR3 mutation responsible for achondroplasia. RBM-007 is administered via subcutaneous injection. It is currently in Phase IIa clinical trials, assessing its safety and preliminary efficacy in affected individuals.
SAR-442501: Sanofi
SAR-442501, developed by Sanofi, is a novel treatment for achondroplasia. It functions as a selective antagonist of the fibroblast growth factor receptor 3 (FGFR3), which is implicated in inhibiting bone growth in achondroplasia. By blocking this receptor, SAR-442501 aims to enhance skeletal growth and improve height outcomes. The drug is administered via subcutaneous injection. The upreACH Phase II study of SAR442501 in pediatric patients with achondroplasia will remain ongoing but is not expected to advance further.
Low dose infigratinib: BridgeBio Inc.
Infigratinib is an oral small molecule in development for the treatment of FGFR-driven conditions, including achondroplasia, a bone growth disorder in children. Over-activating FGFR3 mutations drive downstream MAPK and STAT1 signaling that aberrates growth plate development, thereby causing disproportionate short stature and severe health complications stemming from cranial and spinal issues. Low-dose infigratinib has the potential to help children due to its direct inhibition of the mutant FGFR3 receptor. BridgeBio initiated PROPEL 3, a Phase III clinical trial studying the efficacy and safety of infigratinib in children with achondroplasia. Both the US FDA and the EU EMA indicated the trial design for PROPEL 3 would be acceptable as a registrational study to support a marketing application for the treatment of children with achondroplasia.
Achondroplasia Market Segmentation
DelveInsight's Achondroplasia Market Insights, Epidemiology, and Market Forecast-2034 report provides a detailed outlook of the current and future Achondroplasia market, segmented within countries, by therapies, and by classes. Further, the market of each region is then segmented by each therapy to provide a detailed view of the current and future market share of all therapies.
Achondroplasia Market Size by Countries
The Achondroplasia market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan. In 2023, the United States held a significant share of the overall 7MM (Seven Major Markets) Achondroplasia market, primarily attributed to the elevated cost of the available treatments and the increasing sensitivity toward pneumococcal infections. This dominance is projected to persist, especially with the potential early introduction of new products.
Achondroplasia Market Size by Therapies
Achondroplasia Market Size by Therapies is categorized into current and emerging markets for the study period 2020-2034. One of the emerging drugs anticipated to launch during the forecast period is low-dose infigratinib, which is in BridgeBio Inc.'s developmental pipeline.
The Achondroplasia drugs market is growing due to rising prevalence, with increasing demand for treatments targeting the genetic disorder's symptoms. This section focuses on the sales uptake of potential Achondroplasia drugs that have recently been launched or are anticipated to be launched in the Achondroplasia market between 2020 and 2034. It estimates the market penetration of Achondroplasia drugs for a given country, examining their impact within and across classes and segments. It also touches upon the financial and regulatory decisions contributing to the probability of success (PoS) of the drugs in the Achondroplasia market.
Achondroplasia Market Access and Reimbursement
DelveInsight's 'Achondroplasia Market Insights, Epidemiology, and Market Forecast-2034' report provides a descriptive overview of the market access and reimbursement scenario for Achondroplasia.
This section includes a detailed analysis of each therapy's country-wise healthcare system, enlightening market access, reimbursement policies, and health technology assessments.
KOL Views
To keep up with current Achondroplasia market trends and fill gaps in secondary findings, we interview KOLs and SMEs working in the Achondroplasia domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns for Achondroplasia market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market of Achondroplasia unmet needs.
Achondroplasia: KOL Insights
DelveInsight's analysts connected with 50+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, USA; McGovern Medical School, University of Texas Health, Houston, TX, USA; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Instituto de Investigacion Biomedica de Malaga-IBIMA, Hospital Universitario Virgen de la Victoria, Malaga, Spain; Department of Medical Genetics, Tokyo Medical University, Tokyo Japan; and others.
"Achondroplasia occurs in approximately 1 in 25,000 births globally. Although treatments focus on managing symptoms, there is a need for research into therapies that address the genetic basis of the condition."
Competitive Intelligence Analysis
We conduct a Competitive and Market Intelligence analysis of the Achondroplasia therapeutics market, utilizing various Competitive Intelligence tools such as SWOT analysis, Conjoint Analysis, and Market entry strategies. The inclusion of these analyses is contingent upon data availability, ensuring a comprehensive and well-informed assessment of the market landscape and competitive dynamics.
The emerging Achondroplasia therapies are analyzed based on various attributes such as safety and efficacy in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the Achondroplasia market.
Achondroplasia Pipeline Development Activities
The report offers an analysis of different Achondroplasia clincial trials within Phase II and III stages and examines companies involved in developing targeted therapeutics for Achondroplasia. It provides valuable insights into the advancements and progress of potential treatments in clinical development for this condition.
Pipeline Development Activities
The report covers information on collaborations, acquisitions and mergers, licensing, patent details, and other aspects of emerging Achondroplasia.