메틸말론산혈증(MMA)- 시장 인사이트, 역학, 시장 예측(2034년)

Key Highlight

• Methylmalonic Acidemia is a rare inherited metabolic disorder caused by defects in enzymes or cobalamin metabolism, leading to toxic accumulation of methylmalonic acid, recurrent metabolic crises, neurological complications, and progressive multi-organ involvement including kidney and liver disease.
• Deficiency of methylmalonyl-CoA mutase (MMUT) is the most common, genetically determined cause of MMA It is responsible for ~60% of isolated MMA cases and is most often conditioned by individual mutations.
• Methylmalonic Acidemia treatment market holds strong growth potential, driven by advances in genetic diagnostics, increased disease awareness, and the development of gene and enzyme replacement therapies. Precision medicine approaches aim to address underlying enzymatic defects, offering opportunities for more effective interventions and improved patient outcomes.
• Dietary management with medical foods has long been the standard of care; however, even well-controlled patients may still experience growth, developmental, cardiac, ophthalmologic, renal, and neurological complications.
• Management of MMA focuses on stabilizing metabolism and reducing toxic metabolite buildup through dietary protein restriction and vitamin B12 supplementation in responsive patients, while liver or kidney transplantation may be required in severe cases to improve long-term outcomes and prevent life-threatening complications.
• Long-term management of MMA with carglumic acid (CARBAGLU) emphasizes the importance of extended follow-up, with real-world practice showing effective control often achieved using lower carglumic acid doses than those applied in clinical trial settings.
• Currently, the only drug approved for the treatment of Methylmalonic Acidemia is carglumic acid, which helps manage the metabolic imbalance associated with the disorder.
• The emerging pipeline for Methylmalonic Acidemia includes key players such as ModernaTX (mRNA-3705) and others.

DelveInsight's "Methylmalonic Acidemia (MMA)- Market Insights, Epidemiology, and Market Forecast- 2034" report delivers an in-depth understanding of the MMA, historical and forecasted epidemiology as well as the MMA market trends in the US, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Methylmalonic Acidemia (MMA) market report provides current treatment practices, emerging drugs, and market share of the individual therapies, current and forecasted 7MM MMA market size from 2020 to 2034. The report also covers current MMA treatment practice/algorithm 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

Methylmalonic Acidemia (MMA) Disease Understanding and Treatment Algorithm

Methylmalonic Acidemia Overview

Methylmalonic Acidemia is a rare inherited metabolic disorder caused by defects in the breakdown of certain amino acids, fatty acids, and cholesterol. It results from mutations in genes encoding enzymes such as methylmalonyl-CoA mutase (MUT) or proteins required for cobalamin (vitamin B12) metabolism (MMAA, MMAB, MMACHC, MMADHC). These defects lead to toxic accumulation of methylmalonic acid in blood and tissues.

Methylmalonic Acidemia Diagnosis

MMA is diagnosed through a combination of clinical evaluation, biochemical testing, and genetic confirmation. Infants typically present with poor feeding, vomiting, lethargy, developmental delay, and metabolic acidosis, which raise suspicion for an inborn error of metabolism. Biochemical tests reveal elevated methylmalonic acid levels in blood, urine, or cerebrospinal fluid, while plasma amino acids and acylcarnitine profiles (C3 elevation) provide additional support. Enzyme or functional studies help distinguish MUT-type MMA from cobalamin-related defects. Genetic testing identifies mutations in genes such as MUT, MMAA, MMAB, MMACHC, or MMADHC, enabling subtype classification and guiding prognosis and therapy. In many regions, newborn screening using tandem mass spectrometry allows early detection, helping to prevent severe metabolic crises and improve long-term outcomes.

Methylmalonic Acidemia Treatment

Treatment of Methylmalonic Acidemia aims to manage acute metabolic crises, reduce toxic metabolite accumulation, and support growth and organ function. During decompensation, intravenous fluids, glucose, electrolytes, carnitine, and Carbaglu (carglumic acid; FDA-approved in January 2021 for acute hyperammonemia in MMA and propionic acidemia) are used to enhance metabolite clearance. Dietary protein restriction with specialized formulas, vitamin B12 supplementation in responsive patients, and short-term antibiotics to reduce propionate production help maintain metabolic balance. In severe cases, liver or combined liver-kidney transplantation may be considered, while emerging therapies such as gene therapy, mRNA-based therapy, and enzyme replacement are being explored for long-term metabolic control.

Methylmalonic Acidemia Epidemiology

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by Segmented by: total incident cases of methylmalonic academia, Gender -specific cases of Methylmalonic Acidemia (MMA), Mmutation specific cases of methylmalonic acidemia, (MMUT, MMAA, MMAB, MMADHC, and MCEE), treatable cases of methylmalonic acidemia in the 7MM market covering the US, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

The epidemiology segment also provides the MMA epidemiology data and findings across the US, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

• Systemic messenger RNA therapy as a treatment for methylmalonic acidemia, stated that Isolated methylmalonic acidemia/aciduria is a devastating metabolic disorder with poor outcomes despite current medical treatments.
• Methylmalonic acidemia is the inborn errors of metabolism considered by the accumulation of methylmalonic acid due to deficiency of methylmalonyl-CoA mutase.
• Methylmalonic Acidemia is an ultra-rare disorder with a the US incidence of ~1 in 50,000-100,000 births. The majority of cases (60-70%) are due to MUT mutations, while MMAA (cblA) and MMAB (cblB) account for smaller proportions. MMACHC (cblC) is the most frequent cobalamin-related subtype detected on newborn screening.
• MAA is more prevalent in males, around 60% of patients are male.
• Estimates of incidence for MMA is reported to be 1/50,000 in Japan and 1/250,000 in Germany.

Methylmalonic Acidemia (MMA) Drug Chapters

The drug chapter segment of the MMA report encloses the detailed analysis of MMA marketed drugs and mid and late-stage pipeline drugs. It also helps understand the MMA clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details of each included drug, and the latest news and press releases.

Marketed Drugs

Carglumic acid (CARBAGLU): Eton Pharmaceutical

In January 2021, the Food and Drug Administration (FDA) approved carglumic acid for use as adjunctive therapy in the treatment of acute hyperammonemia due to propionic acidemia or methylmalonic acidemia rare inherited metabolic disorders caused by deficiencies in the enzymes propionyl-CoA carboxylase and methylmalonyl-CoA mutase.

Emerging Drugs

mRNA-3705: ModernaTX

mRNA-3705 is an investigational messenger RNA (mRNA) therapeutic developed by Moderna to treat methylmalonic acidemia caused by methylmalonyl-CoA mutase (MUT) deficiency, a rare and life-threatening inherited metabolic disorder. This condition leads to the accumulation of toxic metabolites, resulting in metabolic crises and multi-organ damage.

In June 2024, the US Food and Drug Administration (FDA) selected mRNA-3705 for its Support for Clinical Trials Advancing Rare Disease Therapeutics (START) pilot program.

Drug Class Insights

Treatment of Methylmalonic Acidemia (MMA) involves multiple drug classes targeting different aspects of the disease. Metabolic supportive agents such as carnitine help enhance the excretion of toxic metabolites, while carglumic acid, FDA-approved for acute hyperammonemia, activates the urea cycle to reduce ammonia levels during metabolic crises. Vitamin therapy with hydroxocobalamin is used in cobalamin-responsive patients to partially restore methylmalonyl-CoA mutase activity. Dietary management through protein restriction and specialized amino acid formulas limits precursors of methylmalonic acid while maintaining adequate nutrition for growth. Short-term antibiotics reduce gut bacterial production of propionate, a metabolite precursor, further helping control metabolite accumulation. In severe or refractory cases, liver or combined liver-kidney transplantation can provide functional enzyme activity and reduce metabolic crises. Emerging therapies, including gene therapy and mRNA-based approaches like Moderna's mRNA-3705, aim to correct the underlying enzymatic defect, offering potential long-term metabolic control.

Methylmalonic Acidemia (MMA) Market Outlook

Dietary management with medical foods has long been the standard of care; however, even well-controlled patients may still experience growth, developmental, cardiac, ophthalmologic, renal, and neurological complications. Once an infant is stabilized and diagnosed, lifelong intensive management under metabolic specialists is crucial. Even with best-practice approaches-such as dietary protein restriction, carnitine supplementation, and ammonia-modulating therapies-patients often face acute metabolic decompensation during illness or stressors like surgery or medical interventions.

The Methylmalonic Acidemia treatment market is steadily expanding, driven by growing disease awareness, improved newborn screening programs, and advances in diagnostic technologies. Traditional management strategies, such as dietary protein restriction and vitamin B12 supplementation, remain foundational, but there is increasing adoption of adjunctive therapies like Carbaglu (carglumic acid) for acute hyperammonemia. Emerging therapies, including gene therapy and mRNA-based treatments such as Moderna's mRNA-3705, are expected to transform the market by addressing the underlying enzymatic defect and offering potential long-term metabolic control.

Market growth is further supported by ongoing clinical trials, regulatory incentives for rare diseases, and the development of pediatric-friendly formulations. However, challenges such as high treatment costs, limited access in resource-constrained regions, and the need for long-term safety and efficacy data may temper rapid adoption. Overall, the MMA treatment market is poised for steady growth, driven by innovation and an expanding therapeutic pipeline.

Methylmalonic Acidemia (MMA) Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2025-2034, which depends on the competitive landscape, safety, and efficacy data, along with the 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.

Methylmalonic Acidemia (MMA) Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III, Phase II, and Phase I stages. It also analyzes key players involved in developing targeted therapeutics.

Pipeline Development Activities

The report covers detailed information on collaborations, acquisitions and mergers, licensing, and patent details for MMA emerging therapies.

KOL Views

To keep up with the real-world scenario in current and emerging market trends, we take opinions from Key Industry Leaders working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on the evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake along with challenges related to accessibility, including Medical/scientific writers, Professors, and Others.

DelveInsight's analyst MMA connected with 10+ KOLs to gather insights; however, interviews were conducted with 5+ KOLs in the 7MM. Centers such as University College London, University of Cincinnati, Harvard Medical School, University of Michigan, and Sarcoma Oncology Center etc., were contacted. Their opinion helps understand and validate current and emerging therapy treatment patterns or MMA market trends.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT analysis and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of gaps in disease diagnosis, patient awareness, physician acceptability, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided.

Conjoint Analysis analyzes multiple approved and emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

In efficacy evaluation for dcSSc, both primary and secondary outcome measures are assessed; for instance, primary endpoints often include reduction in infarct size, improvement in tissue viability, and preservation of organ function, while secondary outcomes may involve biomarkers of oxidative stress, inflammatory response, and overall survival rates.

Further, the therapies' safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Market Access and Reimbursement

Antibiotics are typically prescribed for short durations, often just two weeks, and face reimbursement challenges. Government and private insurers generally use bundled payments for antibiotic treatments, covering the entire course rather than itemizing costs for the drug, administration, and other services. Hospitals receive a fixed amount, so if they manage treatment at a lower cost, they can keep the savings, improving margins. However, this system has led to poor returns for antibiotic developers, resulting in numerous company failures, bankruptcies, and low-value acquisitions in the sector.

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved 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 descriptive overview of MMA, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight has been provided into the MMA epidemiology and treatment.
• Additionally, an all-inclusive account of both the current and emerging therapies for MMA is provided, along with an assessment of new therapies that will have an impact on the current treatment landscape.
• A detailed review of the MMA market, historical and forecasted, is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies by understanding trends shaping and driving the 7MM MMA market.

Methylmalonic Acidemia (MMA) Report Insights

• Patient population
• Therapeutic approaches
• Methylmalonic Acidemia pipeline analysis
• Methylmalonic Acidemia market size and trends
• Market opportunities
• Impact of upcoming therapies

Methylmalonic Acidemia (MMA) Report Key Strengths

• 10-year forecast
• 7MM coverage
• Methylmalonic Acidemia epidemiology segmentation
• Key cross competition
• Highly analyzed market
• Drugs uptake

Methylmalonic Acidemia (MMA) Report Assessment

• Current treatment practices
• Unmet needs
• Pipeline product profiles
• Market attractiveness
• SWOT and conjoint analysis

Key Questions:

FAQs:

• What is the historical and forecasted MMA patient pool/patient burden in the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?
• Which combination treatment approaches will have a significant impact on the MMA drug treatment market size?
• How would the market drivers, barriers, and future opportunities affect the market dynamics and subsequent analysis of the associated trends?
• What are the current and emerging options for the treatment of MMA?
• How many companies are developing therapies for the treatment of MMA?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitations of existing therapies?
• Patient acceptability in terms of preferred treatment options as per real-world scenarios?
• What are the country-specific accessibility issues of expensive, recently approved therapies?

Reasons to Buy:

• The report will help in developing business strategies by understanding trends shaping and driving the MMA market.
• To understand the future market competition in the MMA market, an insightful review of the key market drivers and barriers.
• Organize sales and marketing efforts by identifying the best opportunities for MMA in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Organize sales and marketing efforts by identifying the best opportunities for the MMA market.
• To understand the future market competition in the MMA market.

Table of Contents

1. Key Insights

2. Report Introduction

3. Executive Summary

4. Key Events

5. Epidemiology and Market Forecast Methodology

6. Methylmalonic Acidemia (MMA): Market Overview at a Glance

• 6.1. Total Market Share (%) Distribution of MMA by Therapies in 2024
• 6.2. Total Market Share (%) Distribution of MMA by Therapies in 2034

7. Disease Background and Overview: Methylmalonic Acidemia

• 7.1. Introduction
• 7.2. Risk Factors
• 7.3. Symptoms
• 7.4. Pathophysiology and disease pathways
• 7.5. Diagnostic Tests

8. Treatment and Guidelines

• 8.1. Current Treatment Landscape

9. Epidemiology and Patient Population

• 9.1. Key Findings
• 9.2. Assumptions and Rationale
• 9.3. Total Prevalent Cases of Methylmalonic Acidemia (MMA) in the 7MM
• 9.4. The United States
  • 9.4.1. Total incident cases of Methylmalonic Acidemia (MMA) in the United States
  • 9.4.2. Gender -specific cases of Methylmalonic Acidemia (MMA) in the United States
  • 9.4.3. Mutation specific cases of Methylmalonic Acidemia (MMA) (MMUT, MMAA, MMAB, MMADHC, and MCEE) in the United States
  • 9.4.4. Treatable cases of Methylmalonic Acidemia (MMA) in the United States
• 9.5. EU4 and the UK
  • 9.5.1. Total incident cases of Methylmalonic Acidemia (MMA) in EU4 and the UK
  • 9.5.2. Gender -specific cases of Methylmalonic Acidemia (MMA) in EU4 and the UK
  • 9.5.3. Mutation specific cases of Methylmalonic Acidemia (MMA) (MMUT, MMAA, MMAB, MMADHC, and MCEE) in EU4 and the UK
  • 9.5.4. Treatable cases of Methylmalonic Acidemia (MMA) in EU4 and the UK
• 9.6. Japan
  • 9.6.1. Total incident cases of Methylmalonic Acidemia (MMA) in Japan
  • 9.6.2. Gender -specific cases of Methylmalonic Acidemia (MMA) in
  • 9.6.3. Mutation specific cases of Methylmalonic Acidemia (MMA) (MMUT, MMAA, MMAB, MMADHC, and MCEE) in Japan
  • 9.6.4. Treatable cases of Methylmalonic Acidemia (MMA) in Japan

10. Patient Journey of Methylmalonic Acidemia (MMA)

11. Marketed Drugs

• 11.1. Key Competitors
• 11.2. Carglumic acid (Carbaglu): Eton Pharmaceutical
  • 11.2.1. Product Description
  • 11.2.2. Regulatory Milestones
  • 11.2.3. Other Developmental Activities
  • 11.2.4. Safety and Efficacy
  • 11.2.5. Analyst Views

12. Emerging Therapies

• 12.1. Key Competitors
• 12.2. mRNA-3705: ModernaTX
  • 12.2.1. Product Description
  • 12.2.2. Other Developmental Activities
  • 12.2.3. Clinical Development
    • 12.2.3.1. Clinical Trial Information
  • 12.2.4. Safety and Efficacy
  • 12.2.5. Analyst Views

13. Methylmalonic Acidemia (MMA): Market Size

• 13.1. Key Findings
• 13.2. Market Outlook
• 13.3. Conjoint Analysis
• 13.4. Key Market Forecast Assumptions
  • 13.4.1. Cost Assumptions and Rebates
  • 13.4.2. Pricing Trends
  • 13.4.3. Analogue Assessment
  • 132.4.4. Launch Year and Therapy Uptakes
• 13.5. Total Market Size of MMA in the 7MM
• 13.6. The United States Market Size
  • 13.6.1. Total Market Size of MMA in the United States
  • 13.6.2. Total Market Size of MMA by Therapies in the United States
• 13.7. EU4 and the UK Market Size
  • 13.7.1. Total Market Size of MMA in EU4 and the UK
  • 13.7.2. Total Market Size of MMA by Therapies in EU4 and the UK
• 1.8. Japan Market Size
  • 13.8.1. Total Market Size of MMA in Japan
  • 13.8.2. Total Market Size of MMA by Therapies in Japan

14. Unmet Needs of Methylmalonic Acidemia (MMA)

15. SWOT of Methylmalonic Acidemia (MMA)

16. KOL Views of Methylmalonic Acidemia (MMA)

17. Market Access and Reimbursement

18. Appendix

• 18.1. Bibliography
• 18.2. Report Methodology

19. DelveInsight Capabilities

20. Disclaimer

21. About DelveInsight